Sebastian Schönherr
Dr.techn.

Professor of Computational Genomics and Deputy Director of the Institute

+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at
0000-0001-5909-9226
@seppinho



About me

I am a computational geneticist and develop solutions for large-data genetics. My research lab trys to identify both genetic and non-genetic risk factors for chronic diseases. I am also the co-creator of the Michigan Imputation Server and developed several software packages for analyzing the mitochondrial DNA (haplogrep, mtDNA-Server, haplocheck). I’m also co-leading the Askimed project, the next-generation eCRF system designed for medical studies in the cloud.

Check out my Google Scholar Profile, follow me on Twitter or have a look at my projects on Github.

Recent News

Courses

SS 2023

WS 2022/2023

SS 2022

WS 2021/2022

Publications

2024 (12)

  1. Schönherr S*, Schachtl-Riess JF*, Di Maio S*, Filosi M, Mark M, Lamina C, Fuchsberger C, Kronenberg F, Forer L: Performing highly parallelized and reproducible GWAS analysis on biobank-scale data. NAR Genom Bioinform 6:lqae015, 2024. PMID: 38327871   Journal Article
  2. Koller A, Filosi M, Weissensteiner H, Fazzini F, Gorski M, Pattaro C, Schönherr S, Forer L, Herold JM, Stark KJ, Döttelmayer P, Hicks AA, Pramstaller PP, Würzner R, Eckardt KU, Heid IM, Fuchsberger C, Lamina C, Kronenberg F: Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number. Sci Rep 14:2083, 2024. PMID: 38267512   Journal Article
  3. Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GE, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SS, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJ, Tam CH, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JC, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedman BI, Genter P, Gerstein HC, Giedraitis V, González-Villalpando C, González-Villalpando ME, Gordon-Larsen P, Gross M, Guare LA, Hackinger S, Hakaste L, Han S, Hattersley AT, Herder C, Horikoshi M, Howard AG, Hsueh W, Huang M, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Ikram MA, Ingelsson M, Islam MT, Isono M, Jang HM, Jasmine F, Jiang G, Jonas JB, Jørgensen T, Kamanu FK, Kandeel FR, Kasturiratne A, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor CC, Kibriya MG, Kim DH, Kronenberg F, Kuusisto J, Läll K, Lange LA, Lee KM, Lee MS, Lee NR, Leong A, Li L, Li Y, Li-Gao R, Ligthart S, Lindgren CM, Linneberg A, Liu CT, Liu J, Locke AE, Louie T, Luan J, Luk AO, Luo X, Lv J, Lynch JA, Lyssenko V, Maeda S, Mamakou V, Mansuri SR, Matsuda K, Meitinger T, Melander O, Metspalu A, Mo H, Morris AD, Moura FA, Nadler JL, Nalls MA, Nayak U, Ntalla I, Okada Y, Orozco L, Patel SR, Patil S, Pei P, Pereira MA, Peters A, Pirie FJ, Polikowsky HG, Porneala B, Prasad G, Rasmussen-Torvik LJ, Reiner AP, Roden M, Rohde R, Roll K, Sabanayagam C, Sandow K, Sankareswaran A, Sattar N, Schönherr S, Shahriar M, Shen B, Shi J, Shin DM, Shojima N, Smith JA, So WY, Stančáková A, Steinthorsdottir V, Stilp AM, Strauch K, Taylor KD, Thorand B, Thorsteinsdottir U, Tomlinson B, Tran TC, Tsai FJ, Tuomilehto J, Tusie-Luna T, Udler MS, Valladares-Salgado A, van Dam RM, van Klinken JB, Varma R, Wacher-Rodarte N, Wheeler E, Wickremasinghe AR, van Dijk KW, Witte DR, Yajnik CS, Yamamoto K, Yamamoto K, Yoon K, Yu C, Yuan JM, Yusuf S, Zawistowski M, Zhang L, Zheng W, VA Million Veteran Program, Raffel LJ, Igase M, Ipp E, Redline S, Cho YS, Lind L, Province MA, Fornage M, Hanis CL, Ingelsson E, Zonderman AB, Psaty BM, Wang YX, Rotimi CN, Becker DM, Matsuda F, Liu Y, Yokota M, Kardia SL, Peyser PA, Pankow JS, Engert JC, Bonnefond A, Froguel P, Wilson JG, Sheu WH, Wu JY, Hayes MG, Ma RC, Wong TY, Mook-Kanamori DO, Tuomi T, Chandak GR, Collins FS, Bharadwaj D, Paré G, Sale MM, Ahsan H, Motala AA, Shu XO, Park KS, Jukema JW, Cruz M, Chen YI, Rich SS, McKean-Cowdin R, Grallert H, Cheng CY, Ghanbari M, Tai ES, Dupuis J, Kato N, Laakso M, Köttgen A, Koh WP, Bowden DW, Palmer CN, Kooner JS, Kooperberg C, Liu S, North KE, Saleheen D, Hansen T, Pedersen O, Wareham NJ, Lee J, Kim BJ, Millwood IY, Walters RG, Stefansson K, Ahlqvist E, Goodarzi MO, Mohlke KL, Langenberg C, Haiman CA, Loos RJ, Florez JC, Rader DJ, Ritchie MD, Zöllner S, Mägi R, Marston NA, Ruff CT, van Heel DA, Finer S, Denny JC, Yamauchi T, Kadowaki T, Chambers JC, Ng MC, Sim X, Below JE, Tsao PS, Chang KM, McCarthy MI, Meigs JB, Mahajan A, Spracklen CN, Mercader JM, Boehnke M, Rotter JI, Vujkovic M, Voight BF, Morris AP, Zeggini E: Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature :, 2024. PMID: 38374256   Journal Article
  4. Steinbrenner I, Kotsis F, Kosch R, Meiselbach H, Bärthlein B, Stockmann H, Lipovsek J, Zacharias HU, Altenbuchinger M, Dienemann T, Wytopil M, Bächle H, Sommerer C, Titze S, Weigel A, Weissensteiner H, Schönherr S, Forer L, Kurz NS, Menne J, Schlieper G, Schneider MP, Schäffner E, Kielstein JT, Sitter T, Floege J, Wanner C, Kronenberg F, Köttgen A, Busch M, Krane V, Schmid M, Eckardt KU, Schultheiss UT: Interactive exploration of adverse events and multimorbidity in CKD. Nephrol. Dial. Transplant :, 2024. PMID: 38664006   Journal Article
  5. Weissensteiner H*, Forer L*, Kronenberg F, Schönherr S: mtDNA-Server 2: advancing mitochondrial DNA analysis through highly parallelized data processing and interactive analytics. Nucleic Acids Res. 52:W102-W107, 2024. PMID: 38709886   Journal Article
  6. Forer L, Taliun D, LeFaive J, Smith AV, Boughton AP, Coassin S, Lamina C, Kronenberg F, Fuchsberger C, Schönherr S: Imputation Server PGS: an automated approach to calculate polygenic risk scores on imputation servers. Nucleic Acids Res. 52:W70-W77, 2024. PMID: 38709879   Journal Article
  7. Di Maio S, Zöscher P, Weissensteiner H, Forer L, Schachtl-Riess JF, Amstler S, Streiter G, Pfurtscheller C, Paulweber B, Kronenberg F, Coassin S, Schönherr S: Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model. Genome Biol. 25:167, 2024. PMID: 38926899   Journal Article
  8. Amstler S, Streiter G, Pfurtscheller C, Forer L, Di Maio S, Weissensteiner H, Paulweber B, Schönherr S, Kronenberg F, Coassin S: Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. Genome Med. 16:117, 2024. PMID: 39380090   Journal Article
  9. Kollerits B, Gruber S, Steinbrenner I, Schwaiger JP, Weissensteiner H, Schönherr S, Forer L, Kotsis F, Schultheiss UT, Meiselbach H, Wanner C, Eckardt KU, Kronenberg F, GCKD Investigators: Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study. BMC Cancer 24:320, 2024. PMID: 38454416   Journal Article
  10. Brunner C, Arvandi M, Marth C, Egle D, Baumgart F, Emmelheinz M, Walch B, Lercher J, Iannetti C, Wöll E, Pechlaner A, Zabernigg A, Volgger B, Castellan M, Andraschofsky OT, Markl A, Hubalek M, Schnallinger M, Puntscher S, Siebert U, Schönherr S, Forer L, Bruckmoser E, Laimer J: Incidence of medication-related osteonecrosis of the jaw in patients with breast cancer during a 20-year follow-up: A population-based multicenter retrospective study. J. Clin. Oncol. :JCO2400171, 2024. PMID: 39163561   Journal Article
  11. Taylor J, Thomas R, Metherall P, van Gastel M, Cornec-Le Gall E, Caroli A, Furlano M, Demoulin N, Devuyst O, Winterbottom J, Torra R, Perico N, Le Meur Y, Schoenherr S, Forer L, Gansevoort RT, Simms RJ, Ong ACM: An artificial intelligence generated automated algorithm to measure total kidney volume in ADPKD. Kidney Int. Rep. 9:249-256, 2024. PMID: 38344736   Journal Article
  12. Gruber I, Kollerits B, Forer L, Di Maio S, Schachtl-Riess JF, Kheirkhah A, Schönherr S, Schultheiss UT, Köttgen A, Eckardt KU, Coassin S, Lamina C, Kronenberg F: Lipoprotein(a) concentrations and cardiovascular disease in patients with chronic kidney disease: Results from the German Chronic Kidney Disease study. J. Intern. Med. 296:510-526, 2024. PMID: 39513193   Journal Article

2023 (8)

  1. Schönherr S, Weissensteiner H, Kronenberg F, Forer L: Haplogrep 3 - an interactive haplogroup classification and analysis platform. Nucleic Acids Res. 51:W263-W268, 2023. PMID: 37070190   Journal Article
  2. Schachtl-Riess JF, Schönherr S, Lamina C, Forer L, Coassin S, Streiter G, Kheirkhah A, Li Y, Meiselbach H, Di Maio S, Eckardt KU, Köttgen A, Kronenberg F, GCKD investigators: KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study. Atherosclerosis 368:1-11, 2023. PMID: 36812656   Journal Article
  3. Kheirkhah A, Schachtl-Riess JF, Lamina C, Di Maio S, Koller A, Schönherr S, Coassin S, Forer L, Sekula P, Gieger C, Peters A, Köttgen A, Eckardt KU, Kronenberg F: Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations. Atherosclerosis 386:117384, 2023. PMID: 37989062   Journal Article
  4. Seekircher L, Bánki Z, Kimpel J, Rössler A, Schäfer H, Falkensammer B, Bante D, Forer L, Schönherr S, Shieldvacc-2 Study Group, Harthaller T, Sacher M, Ower C, Tschiderer L, Ulmer H, Krammer F, von Laer D, Borena W, Willeit P: Immune response after two doses of the BNT162b2 COVID-19 vaccine and risk of SARS-CoV-2 breakthrough infection in Tyrol, Austria: an open-label, observational phase 4 trial. Lancet Microbe 4:e612-e621, 2023. PMID: 37354911   Journal Article
  5. Wall JD, Sathirapongsasuti JF, Gupta R, Rasheed A, Venkatesan R, Belsare S, Menon R, Phalke S, Mittal A, Fang J, Tanneeru D, Deshmukh M, Bassi A, Robinson J, Chaudhary R, Murugan S, Ul-Asar Z, Saleem I, Ishtiaq U, Fatima A, Sheikh SS, Hameed S, Ishaq M, Rasheed SZ, Memon FU, Jalal A, Abbas S, Frossard P, Fuchsberger C, Forer L, Schoenherr S, Bei Q, Bhangale T, Tom J, Gadde SGK, B V P, Naik NK, Wang M, Kwok PY, Khera AV, Lakshmi BR, Butterworth AS, Chowdhury R, Danesh J, di Angelantonio E, Naheed A, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Biswas A, Pal PK, Muthane UB, Das SK, Ramprasad VL, Kukkle PL, Seshagiri S, Kathiresan S, Ghosh A, Mohan V, Saleheen D, Stawiski EW, Peterson AS: South Asian medical cohorts reveal strong founder effects and high rates of homozygosity. Nat. Commun. 14:3377, 2023. PMID: 37291107   Journal Article
  6. Duschek E, Forer L, Schönherr S, Gieger C, Peters A, Kronenberg F, Grallert H, Lamina C: A polygenic and family risk score are both independently associated with risk of type 2 diabetes in a population-based study. Sci. Rep. 13:4805, 2023. PMID: 36959271   Journal Article
  7. Sakaue S, Gurajala S, Curtis M, Luo Y, Choi W, Ishigaki K, Kang JB, Rumker L, Deutsch AJ, Schönherr S, Forer L, LeFaive J, Fuchsberger C, Han B, Lenz TL, de Bakker PIW, Okada Y, Smith AV, Raychaudhuri S: Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease. Nat. Protoc. 18:2625-2641, 2023. PMID: 37495751   Review
  8. Bächle H, Sekula P, Schlosser P, Steinbrenner I, Cheng Y, Kotsis F, Meiselbach H, Stockmann H, Schönherr S, Eckardt KU, Devuyst O, Scherberich J, Köttgen A, Schultheiss UT, GCKD investigators: Uromodulin and its association with urinary metabolites: the German Chronic Kidney Disease Study. Nephrol. Dial. Transplant 38:70-79, 2023. PMID: 35612992   Journal Article

2022 (12)

  1. Schwaiger JP, Kollerits B, Steinbrenner I, Weissensteiner H, Schönherr S, Forer L, Kotsis F, Lamina C, Schneider MP, Schultheiss UT, Wanner C, Köttgen A, Eckardt KU, Kronenberg F, GCKD Investigators: Apolipoprotein A-IV concentrations and clinical outcomes in a large chronic kidney disease cohort: Results from the GCKD study. J. Intern. Med. 291:622-636, 2022. PMID: 34914850   Journal Article
  2. Di Maio S, Lamina C, Coassin S, Forer L, Würzner R, Schönherr S, Kronenberg F: Lipoprotein(a) and SARS-CoV-2 infections: Susceptibility to infections, ischemic heart disease and thromboembolic events. J. Intern. Med. 291:101-107, 2022. PMID: 34096654   Journal Article
  3. Grüneis R, Lamina C, Di Maio S, Schönherr S, Zoescher P, Forer L, Streiter G, Peters A, Gieger C, Köttgen A, Kronenberg F, Coassin S: The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A. Atherosclerosis 349:151-159, 2022. PMID: 35534298   Journal Article
  4. Coassin S*, Chemello K*, Khantalin I*, Forer L*, Döttelmayer P, Schönherr S, Grüneis R, Chong-Hong-Fong C, Nativel B, Ramin-Mangata S, Gallo A, Roche M, Muelegger B, Gieger C, Peters A, Zschocke J, Marimoutou C, Meilhac O, Lamina C, Kronenberg F, Blanchard V, Lambert G: Genome-wide characterization of a highly penetrant form of hyperlipoprotein(a)emia associated with genetically elevated cardiovascular risk. Circ. Genom. Precis. Med. 15:e003489, 2022. PMID: 35133173   Journal Article
  5. Hämmerle M, Forer L, Schönherr S, Peters A, Grallert H, Kronenberg F, Gieger C, Lamina C: A family and a genome-wide polygenic risk score are independently associated with stroke in a population-based study. Stroke 53:2331-2339, 2022. PMID: 35387493   Journal Article
  6. Schnitzer F, Forer L, Schönherr S, Gieger C, Grallert H, Kronenberg F, Peters A, Lamina C: Association between a polygenic and family risk score on the prevalence and incidence of myocardial infarction in the KORA-F3 study. Atherosclerosis 352:10-17, 2022. PMID: 35636145   Journal Article
  7. Tschiderer L, Seekircher L, Richter L, von Laer D, Lass-Flörl C, Forer L, Schönherr S, Krammer F, Embacher-Aichhorn S, Tilg H, Weiss G, Allerberger F, Willeit P: Ultra-rapid rollout vaccination with BNT162b2 to reduce SARS-CoV-2 infections in the general population. iScience :105380, 2022. PMID: 36373097   Journal Article
  8. Grüneis R, Weissensteiner H, Lamina C, Schönherr S, Forer L, Di Maio S, Streiter G, Peters A, Gieger C, Kronenberg F, Coassin S: The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat. J. Lipid Res. 63:100306, 2022. PMID: 36309064   Journal Article
  9. Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJ, Horikoshi M, Mercader JM, Taliun D, Moon S, Kwak SH, Robertson NR, Rayner NW, Loh M, Kim BJ, Chiou J, Miguel-Escalada I, Della Briotta Parolo P, Lin K, Bragg F, Preuss MH, Takeuchi F, Nano J, Guo X, Lamri A, Nakatochi M, Scott RA, Lee JJ, Huerta-Chagoya A, Graff M, Chai JF, Parra EJ, Yao J, Bielak LF, Tabara Y, Hai Y, Steinthorsdottir V, Cook JP, Kals M, Grarup N, Schmidt EM, Pan I, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Long J, Sun M, Tong L, Chen WM, Ahmad M, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Lecoeur C, Prins BP, Nicolas A, Yanek LR, Chen G, Jensen RA, Tajuddin S, Kabagambe EK, An P, Xiang AH, Choi HS, Cade BE, Tan J, Flanagan J, Abaitua F, Adair LS, Adeyemo A, Aguilar-Salinas CA, Akiyama M, Anand SS, Bertoni A, Bian Z, Bork-Jensen J, Brandslund I, Brody JA, Brummett CM, Buchanan TA, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Fornage M, Franco OH, Frayling TM, Freedman BI, Fuchsberger C, Genter P, Gerstein HC, Giedraitis V, González-Villalpando C, González-Villalpando ME, Goodarzi MO, Gordon-Larsen P, Gorkin D, Gross M, Guo Y, Hackinger S, Han S, Hattersley AT, Herder C, Howard AG, Hsueh W, Huang M, Huang W, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Ikram MA, Ingelsson M, Islam MT, Isono M, Jang HM, Jasmine F, Jiang G, Jonas JB, Jørgensen ME, Jørgensen T, Kamatani Y, Kandeel FR, Kasturiratne A, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor CC, Kibriya MG, Kim DH, Kohara K, Kriebel J, Kronenberg F, Kuusisto J, Läll K, Lange LA, Lee MS, Lee NR, Leong A, Li L, Li Y, Li-Gao R, Ligthart S, Lindgren CM, Linneberg A, Liu CT, Liu J, Locke AE, Louie T, Luan J, Luk AO, Luo X, Lv J, Lyssenko V, Mamakou V, Mani KR, Meitinger T, Metspalu A, Morris AD, Nadkarni GN, Nadler JL, Nalls MA, Nayak U, Nongmaithem SS, Ntalla I, Okada Y, Orozco L, Patel SR, Pereira MA, Peters A, Pirie FJ, Porneala B, Prasad G, Preissl S, Rasmussen-Torvik LJ, Reiner AP, Roden M, Rohde R, Roll K, Sabanayagam C, Sander M, Sandow K, Sattar N, Schönherr S, Schurmann C, Shahriar M, Shi J, Shin DM, Shriner D, Smith JA, So WY, Stančáková A, Stilp AM, Strauch K, Suzuki K, Takahashi A, Taylor KD, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tomlinson B, Torres JM, Tsai FJ, Tuomilehto J, Tusie-Luna T, Udler MS, Valladares-Salgado A, van Dam RM, van Klinken JB, Varma R, Vujkovic M, Wacher-Rodarte N, Wheeler E, Whitsel EA, Wickremasinghe AR, van Dijk KW, Witte DR, Yajnik CS, Yamamoto K, Yamauchi T, Yengo L, Yoon K, Yu C, Yuan JM, Yusuf S, Zhang L, Zheng W, FinnGen, eMERGE Consortium, Raffel LJ, Igase M, Ipp E, Redline S, Cho YS, Lind L, Province MA, Hanis CL, Peyser PA, Ingelsson E, Zonderman AB, Psaty BM, Wang YX, Rotimi CN, Becker DM, Matsuda F, Liu Y, Zeggini E, Yokota M, Rich SS, Kooperberg C, Pankow JS, Engert JC, Chen YI, Froguel P, Wilson JG, Sheu WHH, Kardia SLR, Wu JY, Hayes MG, Ma RCW, Wong TY, Groop L, Mook-Kanamori DO, Chandak GR, Collins FS, Bharadwaj D, Paré G, Sale MM, Ahsan H, Motala AA, Shu XO, Park KS, Jukema JW, Cruz M, McKean-Cowdin R, Grallert H, Cheng CY, Bottinger EP, Dehghan A, Tai ES, Dupuis J, Kato N, Laakso M, Köttgen A, Koh WP, Palmer CNA, Liu S, Abecasis G, Kooner JS, Loos RJF, North KE, Haiman CA, Florez JC, Saleheen D, Hansen T, Pedersen O, Mägi R, Langenberg C, Wareham NJ, Maeda S, Kadowaki T, Lee J, Millwood IY, Walters RG, Stefansson K, Myers SR, Ferrer J, Gaulton KJ, Meigs JB, Mohlke KL, Gloyn AL, Bowden DW, Below JE, Chambers JC, Sim X, Boehnke M, Rotter JI, McCarthy MI, Morris AP: Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat. Genet. 54:560-572, 2022. PMID: 35551307   Journal Article
  10. Yu K, Das S, LeFaive J, Kwong A, Pleiness J, Forer L, Schönherr S, Fuchsberger C, Smith AV, Abecasis GR: Meta-imputation: An efficient method to combine genotype data after imputation with multiple reference panels. Am. J. Hum. Genet. 109:1007-1015, 2022. PMID: 35508176   Journal Article
  11. Hanks SC, Forer L, Schönherr S, LeFaive J, Martins T, Welch R, Gagliano Taliun SA, Braff D, Johnsen JM, Kenny EE, Konkle BA, Laakso M, Loos RFJ, McCarroll S, Pato C, Pato MT, Smith AV, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Boehnke M, Scott LJ, Fuchsberger C: Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing. Am. J. Hum. Genet. 109:1653-1666, 2022. PMID: 35981533   Journal Article
  12. Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Lee WJ, Hsiung CA, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Schönherr S, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw EW, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Le P, Feitosa MF, Wojczynski MK, Hemerich D, Preuss M, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Noah TL, Verma A, Slieker RC, Lo KS, Zilhao NR, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Emmel C, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Sankareswaran A, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Morgan A, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, He KY, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Ida Chen YD, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, den Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Walker M, Scott LJ, Koistinen HA, Chandak GR, Mercader JM, Villalpando CG, Orozco L, Fornage M, Tai ES, van Dam RM, Lehtimäki T, Chaturvedi N, Yokota M, Liu J, Reilly DF, McKnight AJ, Kee F, Jöckel KH, McCarthy MI, Palmer CNA, Vitart V, Hayward C, Simonsick E, van Duijn CM, Jin ZB, Lu F, Hishigaki H, Lin X, März W, Gudnason V, Tardif JC, Lettre G, T Hart LM, Elders PJM, Rader DJ, Damrauer SM, Kumari M, Kivimaki M, van der Harst P, Spector TD, Loos RJF, Province MA, Parra EJ, Cruz M, Psaty BM, Brandslund I, Pramstaller PP, Rotimi CN, Christensen K, Ripatti S, Widén E, Hakonarson H, Grant SFA, Kiemeney L, de Graaf J, Loeffler M, Kronenberg F, Gu D, Erdmann J, Schunkert H, Franks PW, Linneberg A, Jukema JW, Khera AV, Männikkö M, Jarvelin MR, Kutalik Z, Francesco C, Mook-Kanamori DO, Willems van Dijk K, Watkins H, Strachan DP, Grarup N, Sever P, Poulter N, Huey-Herng Sheu W, Rotter JI, Dantoft TM, Karpe F, Neville MJ, Timpson NJ, Cheng CY, Wong TY, Khor CC, Li H, Sabanayagam C, Peters A, Gieger C, Hattersley AT, Pedersen NL, Magnusson PKE, Boomsma DI, de Geus EJC, Cupples LA, van Meurs JBJ, Ikram A, Ghanbari M, Gordon-Larsen P, Huang W, Kim YJ, Tabara Y, Wareham NJ, Langenberg C, Zeggini E, Tuomilehto J, Kuusisto J, Laakso M, Ingelsson E, Abecasis G, Chambers JC, Kooner JS, de Vries PS, Morrison AC, Hazelhurst S, Ramsay M, North KE, Daviglus M, Kraft P, Martin NG, Whitfield JB, Abbas S, Saleheen D, Walters RG, Holmes MV, Black C, Smith BH, Baras A, Justice AE, Buring JE, Ridker PM, Chasman DI, Kooperberg C, Tamiya G, Yamamoto M, van Heel DA, Trembath RC, Wei WQ, Jarvik GP, Namjou B, Hayes MG, Ritchie MD, Jousilahti P, Salomaa V, Hveem K, Åsvold BO, Kubo M, Kamatani Y, Okada Y, Murakami Y, Kim BJ, Thorsteinsdottir U, Stefansson K, Zhang J, Chen YE, Ho YL, Lynch JA, Tsao PS, Chang KM, Cho K, O'Donnell CJ, Gaziano JM, Wilson P, Mohlke KL, Frayling TM, Hirschhorn JN, Kathiresan S, Boehnke M, Million Veterans Program, Global Lipids Genetics Consortium, Struan Grant, Natarajan P, Sun YV, Morris AP, Deloukas P, Peloso G, Assimes TL, Willer CJ, Zhu X, Brown CD: A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am. J. Hum. Genet. 109:1366-1387, 2022. PMID: 35931049   Journal Article

2021 (9)

  1. Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators: Frequent LPA KIV-2 variants lower lipoprotein(a) concentrations and protect against coronary artery disease. J. Am. Coll. Cardiol. 78:437-449, 2021. PMID: 34325833   Journal Article
  2. Fazzini F, Lamina C, Raftopoulou A, Koller A, Fuchsberger C, Pattaro C, Del Greco FM, Döttelmayer P, Fendt L, Fritz J, Meiselbach H, Schönherr S, Forer L, Weissensteiner H, Pramstaller PP, Eckardt KU, Hicks AA, Kronenberg F, GCKD Investigators: Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individuals. J. Intern. Med. 290:190-202, 2021. PMID: 33453124   Journal Article
  3. Fazzini F, Fendt L, Schönherr S, Forer L, Schöpf B, Streiter G, Losso JL, Kloss-Brandstätter A, Kronenberg F, Weissensteiner H: Analyzing low-level mtDNA heteroplasmy-pitfalls and challenges from bench to benchmarking. Int. J. Mol. Sci. 22:935, 2021. PMID: 33477827   Journal Article
  4. Weissensteiner H, Forer L, Fendt L, Kheirkhah A, Salas A, Kronenberg F, Schoenherr S: Contamination detection in sequencing studies using the mitochondrial phylogeny. Genome Res. 31:309-316, 2021. PMID: 33452015   Journal Article
  5. Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, Das S, Emde AK, Clarke WE, Loesch DP, Shetty AC, Blackwell TW, Smith AV, Wong Q, Liu X, Conomos MP, Bobo DM, Aguet F, Albert C, Alonso A, Ardlie KG, Arking DE, Aslibekyan S, Auer PL, Barnard J, Barr RG, Barwick L, Becker LC, Beer RL, Benjamin EJ, Bielak LF, Blangero J, Boehnke M, Bowden DW, Brody JA, Burchard EG, Cade BE, Casella JF, Chalazan B, Chasman DI, Chen YI, Cho MH, Choi SH, Chung MK, Clish CB, Correa A, Curran JE, Custer B, Darbar D, Daya M, de Andrade M, DeMeo DL, Dutcher SK, Ellinor PT, Emery LS, Eng C, Fatkin D, Fingerlin T, Forer L, Fornage M, Franceschini N, Fuchsberger C, Fullerton SM, Germer S, Gladwin MT, Gottlieb DJ, Guo X, Hall ME, He J, Heard-Costa NL, Heckbert SR, Irvin MR, Johnsen JM, Johnson AD, Kaplan R, Kardia SLR, Kelly T, Kelly S, Kenny EE, Kiel DP, Klemmer R, Konkle BA, Kooperberg C, Köttgen A, Lange LA, Lasky-Su J, Levy D, Lin X, Lin KH, Liu C, Loos RJF, Garman L, Gerszten R, Lubitz SA, Lunetta KL, Mak ACY, Manichaikul A, Manning AK, Mathias RA, McManus DD, McGarvey ST, Meigs JB, Meyers DA, Mikulla JL, Minear MA, Mitchell BD, Mohanty S, Montasser ME, Montgomery C, Morrison AC, Murabito JM, Natale A, Natarajan P, Nelson SC, North KE, O'Connell JR, Palmer ND, Pankratz N, Peloso GM, Peyser PA, Pleiness J, Post WS, Psaty BM, Rao DC, Redline S, Reiner AP, Roden D, Rotter JI, Ruczinski I, Sarnowski C, Schoenherr S, Schwartz DA, Seo JS, Seshadri S, Sheehan VA, Sheu WH, Shoemaker MB, Smith NL, Smith JA, Sotoodehnia N, Stilp AM, Tang W, Taylor KD, Telen M, Thornton TA, Tracy RP, Van Den Berg DJ, Vasan RS, Viaud-Martinez KA, Vrieze S, Weeks DE, Weir BS, Weiss ST, Weng LC, Willer CJ, Zhang Y, Zhao X, Arnett DK, Ashley-Koch AE, Barnes KC, Boerwinkle E, Gabriel S, Gibbs R, Rice KM, Rich SS, Silverman EK, Qasba P, Gan W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Papanicolaou GJ, Nickerson DA, Browning SR, Zody MC, Zöllner S, Wilson JG, Cupples LA, Laurie CC, Jaquish CE, Hernandez RD, O'Connor TD, Abecasis GR: Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature 590:290-299, 2021. PMID: 33568819   Journal Article
  6. Bauer A, Schreinlechner M, Sappler N, Dolejsi T, Tilg H, Aulinger BA, Weiss G, Bellmann-Weiler R, Adolf C, Wolf D, Pirklbauer M, Graziadei I, Gänzer H, von Bary C, May AE, Wöll E, von Scheidt W, Rassaf T, Duerschmied D, Brenner C, Kääb S, Metzler B, Joannidis M, Kain HU, Kaiser N, Schwinger R, Witzenbichler B, Alber H, Straube F, Hartmann N, Achenbach S, von Bergwelt-Baildon M, von Stülpnagel L, Schoenherr S, Forer L, Embacher-Aichhorn S, Mansmann U, Rizas KD, Massberg S, ACEI-COVID investigators: Discontinuation versus continuation of renin-angiotensin-system inhibitors in COVID-19 (ACEI-COVID): a prospective, parallel group, randomised, controlled, open-label trial. Lancet Respir. Med. 9:863-872, 2021. PMID: 34126053   Journal Article
  7. Cortes-Figueiredo F, Carvalho FS, Fonseca AC, Paul F, Ferro JM, Schönherr S, Weissensteiner H, Morais VA: From forensics to clinical research: Expanding the variant calling pipeline for the Precision ID mtDNA Whole Genome Panel. Int. J. Mol. Sci. 22:12031, 2021. PMID: 34769461   Journal Article
  8. Luo Y, Kanai M, Choi W, Li X, Sakaue S, Yamamoto K, Ogawa K, Gutierrez-Arcelus M, Gregersen PK, Stuart PE, Elder JT, Forer L, Schönherr S, Fuchsberger C, Smith AV, Fellay J, Carrington M, Haas DW, Guo X, Palmer ND, Chen YI, Rotter JI, Taylor KD, Rich SS, Correa A, Wilson JG, Kathiresan S, Cho MH, Metspalu A, Esko T, Okada Y, Han B, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, McLaren PJ, Raychaudhuri S: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response. Nat. Genet. 53:1504-1516, 2021. PMID: 34611364   Journal Article
  9. Borena W, Bánki Z, Bates K, Winner H, Riepler L, Rössler A, Pipperger L, Theurl I, Falkensammer B, Ulmer H, Walser A, Pichler D, Baumgartner M, Schönherr S, Forer L, Knabl L, Würzner R, von Laer D, Paetzold J, Kimpel J: Persistence of immunity to SARS-CoV-2 over time in the ski resort Ischgl. EBioMedicine 70:103534, 2021. PMID: 34392147   Journal Article

2020 (6)

  1. Lamina C, Kronenberg F, Stenvinkel P, Froissart M, Forer L, Schönherr S, Wheeler DC, Eckardt KU, Floege J: Association of changes in bone mineral parameters with mortality in haemodialysis patients: insights from the ARO cohort. Nephrol. Dial. Transplant 35:478-487, 2020. PMID: 31006013   Journal Article
  2. Fazzini F, Lamina C, Raschenberger J, Schultheiss UT, Kotsis F, Schönherr S, Weissensteiner H, Forer L, Steinbrenner I, Meiselbach H, Bärthlein B, Wanner C, Eckardt KU, Köttgen A, Kronenberg F, GCKD Investigators: Results from the German Chronic Kidney Disease (GCKD) study support association of relative telomere length with mortality in a large cohort of patients with moderate chronic kidney disease. Kidney Int. 98:488-497, 2020. PMID: 32641227   Journal Article
  3. Di Maio S, Grüneis R, Streiter G, Lamina C, Maglione M, Schoenherr S, Öfner D, Thorand B, Peters A, Eckardt KU, Köttgen A, Kronenberg F, Coassin S: Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals. Genome Med. 12:74, 2020. PMID: 32825847   Journal Article
  4. Fendt L, Fazzini F, Weissensteiner H, Bruckmoser E, Schönherr S, Schäfer G, Losso JL, Streiter GA, Lamina C, Rasse M, Klocker H, Kofler B, Kloss-Brandstätter A, Huck CW, Kronenberg F, Laimer J: Profiling of mitochondrial DNA heteroplasmy in a prospective oral squamous cell carcinoma study. Cancers (Basel) 12:1933, 2020. PMID: 32708892   Journal Article
  5. Nielsen JB, Rom O, Surakka I, Graham SE, Zhou W, Roychowdhury T, Fritsche LG, Gagliano Taliun SA, Sidore C, Liu Y, Gabrielsen ME, Skogholt AH, Wolford B, Overton W, Zhao Y, Chen J, Zhang H, Hornsby WE, Acheampong A, Grooms A, Schaefer A, Zajac GJM, Villacorta L, Zhang J, Brumpton B, Løset M, Rai V, Lundegaard PR, Olesen MS, Taylor KD, Palmer ND, Chen YD, Choi SH, Lubitz SA, Ellinor PT, Barnes KC, Daya M, Rafaels N, Weiss ST, Lasky-Su J, Tracy RP, Vasan RS, Cupples LA, Mathias RA, Yanek LR, Becker LC, Peyser PA, Bielak LF, Smith JA, Aslibekyan S, Hidalgo BA, Arnett DK, Irvin MR, Wilson JG, Musani SK, Correa A, Rich SS, Guo X, Rotter JI, Konkle BA, Johnsen JM, Ashley-Koch AE, Telen MJ, Sheehan VA, Blangero J, Curran JE, Peralta JM, Montgomery C, Sheu WH, Chung RH, Schwander K, Nouraie SM, Gordeuk VR, Zhang Y, Kooperberg C, Reiner AP, Jackson RD, Bleecker ER, Meyers DA, Li X, Das S, Yu K, LeFaive J, Smith A, Blackwell T, Taliun D, Zollner S, Forer L, Schoenherr S, Fuchsberger C, Pandit A, Zawistowski M, Kheterpal S, Brummett CM, Natarajan P, Schlessinger D, Lee S, Kang HM, Cucca F, Holmen OL, Åsvold BO, Boehnke M, Kathiresan S, Abecasis GR, Chen YE, Willer CJ, Hveem K: Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease. Nat. Commun. 11:6417, 2020. PMID: 33339817   Journal Article
  6. Salas A, Schönherr S, Bandelt HJ, Gómez-Carballa A, Weissensteiner H: Extraordinary claims require extraordinary evidence in asserted mtDNA biparental inheritance. Forensic Sci. Int. Genet. 47:102274, 2020. PMID: 32330850   Commentary

2019 (1)

  1. Coassin S*, Schönherr S*, Weissensteiner H, Erhart G, Forer L, Losso JL, Lamina C, Haun M, Utermann G, Paulweber B, Specht G, Kronenberg F: A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region. J. Lipid Res. 60:186-199, 2019. PMID: 30413653   Journal Article

2018 (2)

  1. Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Payne AJ, Steinthorsdottir V, Scott RA, Grarup N, Cook JP, Schmidt EM, Wuttke M, Sarnowski C, Mägi R, Nano J, Gieger C, Trompet S, Lecoeur C, Preuss MH, Prins BP, Guo X, Bielak LF, Below JE, Bowden DW, Chambers JC, Kim YJ, Ng MCY, Petty LE, Sim X, Zhang W, Bennett AJ, Bork-Jensen J, Brummett CM, Canouil M, Ec Kardt KU, Fischer K, Kardia SLR, Kronenberg F, Läll K, Liu CT, Locke AE, Luan J, Ntalla I, Nylander V, Schönherr S, Schurmann C, Yengo L, Bottinger EP, Brandslund I, Christensen C, Dedoussis G, Florez JC, Ford I, Franco OH, Frayling TM, Giedraitis V, Hackinger S, Hattersley AT, Herder C, Ikram MA, Ingelsson M, Jørgensen ME, Jørgensen T, Kriebel J, Kuusisto J, Ligthart S, Lindgren CM, Linneberg A, Lyssenko V, Mamakou V, Meitinger T, Mohlke KL, Morris AD, Nadkarni G, Pankow JS, Peters A, Sattar N, Stančáková A, Strauch K, Taylor KD, Thorand B, Thorleifsson G, Thorsteinsdottir U, Tuomilehto J, Witte DR, Dupuis J, Peyser PA, Zeggini E, Loos RJF, Froguel P, Ingelsson E, Lind L, Groop L, Laakso M, Collins FS, Jukema JW, Palmer CNA, Grallert H, Metspalu A, Dehghan A, Köttgen A, Abecasis GR, Meigs JB, Rotter JI, Marchini J, Pedersen O, Hansen T, Langenberg C, Wareham NJ, Stefansson K, Gloyn AL, Morris AP, Boehnke M, McCarthy MI: Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat. Genet. 50:1505-1513, 2018. PMID: 30297969   Journal Article
  2. Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, Guo X, Lu Y, Li M, Jensen RA, Hu Y, Huo S, Lohman KK, Zhang W, Cook JP, Prins BP, Flannick J, Grarup N, Trubetskoy VV, Kravic J, Kim YJ, Rybin DV, Yaghootkar H, Müller-Nurasyid M, Meidtner K, Li-Gao R, Varga TV, Marten J, Li J, Smith AV, An P, Ligthart S, Gustafsson S, Malerba G, Demirkan A, Tajes JF, Steinthorsdottir V, Wuttke M, Lecoeur C, Preuss M, Bielak LF, Graff M, Highland HM, Justice AE, Liu DJ, Marouli E, Peloso GM, Warren HR, ExomeBP Consortium, MAGIC Consortium, GIANT Consortium, Afaq S, Afzal S, Ahlqvist E, Almgren P, Amin N, Bang LB, Bertoni AG, Bombieri C, Bork-Jensen J, Brandslund I, Brody JA, Burtt NP, Canouil M, Chen YI, Cho YS, Christensen C, Eastwood SV, Eckardt KU, Fischer K, Gambaro G, Giedraitis V, Grove ML, de Haan HG, Hackinger S, Hai Y, Han S, Tybjærg-Hansen A, Hivert MF, Isomaa B, Jäger S, Jørgensen ME, Jørgensen T, Käräjämäki A, Kim BJ, Kim SS, Koistinen HA, Kovacs P, Kriebel J, Kronenberg F, Läll K, Lange LA, Lee JJ, Lehne B, Li H, Lin KH, Linneberg A, Liu CT, Liu J, Loh M, Mägi R, Mamakou V, McKean-Cowdin R, Nadkarni G, Neville M, Nielsen SF, Ntalla I, Peyser PA, Rathmann W, Rice K, Rich SS, Rode L, Rolandsson O, Schönherr S, Selvin E, Small KS, Stančáková A, Surendran P, Taylor KD, Teslovich TM, Thorand B, Thorleifsson G, Tin A, Tönjes A, Varbo A, Witte DR, Wood AR, Yajnik P, Yao J, Yengo L, Young R, Amouyel P, Boeing H, Boerwinkle E, Bottinger EP, Chowdhury R, Collins FS, Dedoussis G, Dehghan A, Deloukas P, Ferrario MM, Ferrières J, Florez JC, Frossard P, Gudnason V, Harris TB, Heckbert SR, Howson JMM, Ingelsson M, Kathiresan S, Kee F, Kuusisto J, Langenberg C, Launer LJ, Lindgren CM, Männistö S, Meitinger T, Melander O, Mohlke KL, Moitry M, Morris AD, Murray AD, de Mutsert R, Orho-Melander M, Owen KR, Perola M, Peters A, Province MA, Rasheed A, Ridker PM, Rivadineira F, Rosendaal FR, Rosengren AH, Salomaa V, Sheu WH, Sladek R, Smith BH, Strauch K, Uitterlinden AG, Varma R, Willer CJ, Blüher M, Butterworth AS, Chambers JC, Chasman DI, Danesh J, van Duijn C, Dupuis J, Franco OH, Franks PW, Froguel P, Grallert H, Groop L, Han BG, Hansen T, Hattersley AT, Hayward C, Ingelsson E, Kardia SLR, Karpe F, Kooner JS, Köttgen A, Kuulasmaa K, Laakso M, Lin X, Lind L, Liu Y, Loos RJF, Marchini J, Metspalu A, Mook-Kanamori D, Nordestgaard BG, Palmer CNA, Pankow JS, Pedersen O, Psaty BM, Rauramaa R, Sattar N, Schulze MB, Soranzo N, Spector TD, Stefansson K, Stumvoll M, Thorsteinsdottir U, Tuomi T, Tuomilehto J, Wareham NJ, Wilson JG, Zeggini E, Scott RA, Barroso I, Frayling TM, Goodarzi MO, Meigs JB, Boehnke M, Saleheen D, Morris AP, Rotter JI, McCarthy MI: Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat. Genet. 50:559-571, 2018. PMID: 29632382   Journal Article

2017 (3)

  1. Coassin S, Erhart G, Weissensteiner H, Eca Guimarães de Araújo M, Lamina C, Schönherr S, Forer L, Haun M, Losso JL, Köttgen A, Schmidt K, Utermann G, Peters A, Gieger C, Strauch K, Finkenstedt A, Bale R, Zoller H, Paulweber B, Eckardt KU, Hüttenhofer A, Huber LA, Kronenberg F: A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction. Eur. Heart J. 38:1823-1831, 2017. PMID: 28444229   Journal Article
  2. Mack S, Coassin S, Rueedi R, Yousri NA, Seppälä I, Gieger C, Schönherr S, Forer L, Erhart G, Marques-Vidal P, Ried JS, Waeber G, Bergmann S, Dähnhardt D, Stöckl A, Raitakari OT, Kähönen M, Peters A, Meitinger T, Strauch K, Kedenko L, Paulweber B, Lehtimäki T, Hunt SC, Vollenweider P, Lamina C, Kronenberg F: A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. J. Lipid Res. 58:1834-1844, 2017. PMID: 28512139   Journal Article
  3. Taliun D, Chothani SP, Schönherr S, Forer L, Boehnke M, Abecasis GR, Wang C: LASER server: ancestry tracing with genotypes or sequence reads. Bioinformatics 33:2056-2058, 2017. PMID: 28200055   Journal Article

2016 (7)

  1. Forer L, Afgan E, Weissensteiner H, Davidovic D, Specht G, Kronenberg F, Schönherr S: Cloudflow - Enabling faster biomedical pipelines with Mapreduce and Spark. Scalable Computing: Practice and Experience 17:103-114, 2016. PMID:   Proceedings
  2. Weissensteiner H*, Forer L*, Fuchsberger C, Schöpf B, Kloss-Brandstätter A, Specht G, Kronenberg F, Schönherr S: mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud. Nucleic Acids Res. 44:W64-9, 2016. PMID: 27084948   Journal Article
  3. Weissensteiner H, Pacher D, Kloss-Brandstätter A, Forer L, Specht G, Bandelt HJ, Kronenberg F, Salas A, Schönherr S: HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing. Nucleic Acids Res. 44:W58-63, 2016. PMID: 27084951   Journal Article
  4. Das S*, Forer L*, Schönherr S*, Sidore C, Locke AE, Kwong A, Vrieze SI, Chew EY, Levy S, McGue M, Schlessinger D, Stambolian D, Loh PR, Iacono WG, Swaroop A, Scott LJ, Cucca F, Kronenberg F, Boehnke M, Abecasis GR, Fuchsberger C: Next-generation genotype imputation service and methods. Nat. Genet. 48:1284-1287, 2016. PMID: 27571263   Journal Article
  5. Lamina C, Friedel S, Coassin S, Rueedi R, Yousri NA, Seppälä I, Gieger C, Schönherr S, Forer L, Erhart G, Kollerits B, Marques-Vidal P, Ried J, Waeber G, Bergmann S, Dähnhardt D, Stöckl A, Kiechl S, Raitakari OT, Kähönen M, Willeit J, Kedenko L, Paulweber B, Peters A, Meitinger T, Strauch K, KORA Study Group, Lehtimäki T, Hunt SC, Vollenweider P, Kronenberg F: A genome-wide association meta-analysis on apolipoprotein A-IV concentrations. Hum. Mol. Genet. 25:3635-3646, 2016. PMID: 27412012   Journal Article
  6. Loh PR, Danecek P, Palamara PF, Fuchsberger C, A Reshef Y, K Finucane H, Schoenherr S, Forer L, McCarthy S, Abecasis GR, Durbin R, L Price A: Reference-based phasing using the Haplotype Reference Consortium panel. Nat. Genet. 48:1443-1448, 2016. PMID: 27694958   Journal Article
  7. McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, Vrieze S, Scott LJ, Zhang H, Mahajan A, Veldink J, Peters U, Pato C, van Duijn CM, Gillies CE, Gandin I, Mezzavilla M, Gilly A, Cocca M, Traglia M, Angius A, Barrett JC, Boomsma D, Branham K, Breen G, Brummett CM, Busonero F, Campbell H, Chan A, Chen S, Chew E, Collins FS, Corbin LJ, Smith GD, Dedoussis G, Dorr M, Farmaki AE, Ferrucci L, Forer L, Fraser RM, Gabriel S, Levy S, Groop L, Harrison T, Hattersley A, Holmen OL, Hveem K, Kretzler M, Lee JC, McGue M, Meitinger T, Melzer D, Min JL, Mohlke KL, Vincent JB, Nauck M, Nickerson D, Palotie A, Pato M, Pirastu N, McInnis M, Richards JB, Sala C, Salomaa V, Schlessinger D, Schoenherr S, Slagboom PE, Small K, Spector T, Stambolian D, Tuke M, Tuomilehto J, Van den Berg LH, Van Rheenen W, Volker U, Wijmenga C, Toniolo D, Zeggini E, Gasparini P, Sampson MG, Wilson JF, Frayling T, de Bakker PI, Swertz MA, McCarroll S, Kooperberg C, Dekker A, Altshuler D, Willer C, Iacono W, Ripatti S, Soranzo N, Walter K, Swaroop A, Cucca F, Anderson CA, Myers RM, Boehnke M, McCarthy MI, Durbin R, Haplotype Reference Consortium: A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48:1279-1283, 2016. PMID: 27548312   Journal Article

2015 (5)

  1. Forer L, Afgan E, Weissensteiner H, Davidovic D, Specht G, Kronenberg F, Schönherr S: A framework for MapReduce pipeline development in Biomedical Research. 38th International Convention on Information and Communication Technology, Electronics and Microelectronics, MIPRO 2015 2015:172-177, 2015. PMID:   Proceedings
  2. Raschenberger J, Kollerits B, Titze S, Köttgen A, Bärthlein B, Ekici AB, Forer L, Schönherr S, Weissensteiner H, Haun M, Wanner C, Eckardt KU, Kronenberg F, GCKD study Investigators: Association of relative telomere length with cardiovascular disease in a large chronic kidney disease cohort: the GCKD study. Atherosclerosis 242:529-534, 2015. PMID: 26302167   Journal Article
  3. Raschenberger J, Kollerits B, Titze S, Köttgen A, Bärthlein B, Ekici AB, Forer L, Schönherr S, Weissensteiner H, Haun M, Wanner C, Eckardt KU, Kronenberg F, GCKD study Investigators: Do telomeres have a higher plasticity than thought? Results from the German Chronic Kidney Disease (GCKD) study as a high-risk population. Exp. Gerontol. 72:162-166, 2015. PMID: 26423240   Journal Article
  4. Kloss-Brandstätter A, Weissensteiner H, Erhart G, Schäfer G, Forer L, Schönherr S, Pacher D, Seifarth C, Stöckl A, Fendt L, Sottsas I, Klocker H, Huck CW, Rasse M, Kronenberg F, Kloss FR: Validation of next-generation sequencing of entire mitochondrial genomes and the diversity of mitochondrial DNA mutations in oral squamous cell carcinoma. PLoS One 10:e0135643, 2015. PMID: 26262956   Journal Article
  5. Spjuth O, Bongcam-Rudloff E, Hernández GC, Forer L, Giovacchini M, Guimera RV, Kallio A, Korpelainen E, Kańduła MM, Krachunov M, Kreil DP, Kulev O, Łabaj PP, Lampa S, Pireddu L, Schönherr S, Siretskiy A, Vassilev D: Experiences with workflows for automating data-intensive bioinformatics. Biol. Direct 10:43, 2015. PMID: 26282399   Journal Article

2014 (2)

  1. Forer L, Lipic T, Schönherr S, Weissensteiner H, Davidovic D, Kronenberg F, Afgan E: Delivering bioinformatics MapReduce Applications in the Cloud. 37th International Convention on Information and Communication Technology, Electronics and Microelectronics, MIPRO 2014 2014:373-377, 2014. PMID:   Proceedings
  2. Summerer M, Horst J, Erhart G, Weißensteiner H, Schönherr S, Pacher D, Forer L, Horst D, Manhart A, Horst B, Sanguansermsri T, Kloss-Brandstätter A: Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar. BMC Evol. Biol. 14:17, 2014. PMID: 24467713   Journal Article

2013 (2)

  1. Schönherr S, Specht G: Big Data in Genetics. In: Barden M, Ostermann A.: Scientific Computing @ uibk. 2013:87-89, 2013. PMID:   Book Chapter
  2. Weissensteiner H, Haun M, Schönherr S, Neuner M, Forer L, Specht G, Kloss-Brandstätter A, Kronenberg F, Coassin S: SNPflow: a lightweight application for the processing, storing and automatic quality checking of genotyping assays. PLoS One 8:e59508, 2013. PMID: 23527209   Journal Article

2012 (3)

  1. Forer L, Schönherr S, Weißensteiner H, Specht G, Kronenberg F, Kloss-Brandstätter A: Cloud computing: bringing computational power to medical genetics. In: Trajanoski Z, ed. Computational Medicine. 2012:27-36, 2012. PMID:   Book Chapter
  2. Lamina C, Forer L, Schönherr S, Kollerits B, Ried JS, Gieger C, Peters A, Wichmann HE, Kronenberg F: Evaluation of gene-obesity interaction effects on cholesterol levels: a genetic predisposition score on HDL-cholesterol is modified by obesity. Atherosclerosis 225:363-369, 2012. PMID: 23058813   Journal Article
  3. Schönherr S*, Forer L*, Weißensteiner H, Kronenberg F, Specht G, Kloss-Brandstätter A: Cloudgene: a graphical execution platform for MapReduce programs on private and public clouds. BMC Bioinformatics 13:200, 2012. PMID: 22888776   Journal Article

2011 (1)

  1. Kloss-Brandstätter A, Pacher D, Schönherr S, Weissensteiner H, Binna R, Specht G, Kronenberg F: HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups. Hum. Mutat. 32:25-32, 2011. PMID: 20960467   Journal Article

2010 (2)

  1. Weissensteiner H, Schönherr S, Specht G, Kronenberg F, Brandstätter A: eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies. BMC Bioinformatics 11:122, 2010. PMID: 20214782   Journal Article
  2. Forer L, Schönherr S, Weissensteiner H, Haider F, Kluckner T, Gieger C, Wichmann HE, Specht G, Kronenberg F, Kloss-Brandstätter A: CONAN: copy number variation analysis software for genome-wide association studies. BMC Bioinformatics 11:318, 2010. PMID: 20546565   Journal Article

2009 (1)

  1. Schönherr S, Weissensteiner H, Coassin S, Specht G, Kronenberg F, Brandstätter A: eCOMPAGT -- efficient combination and management of phenotypes and genotypes for genetic epidemiology. BMC Bioinformatics 10:139, 2009. PMID: 19432954   Journal Article