Research interests
- Bioinformatics
- Mitochondrial Genomes (mtDNA)
- Haplogroup classification
- Low level variant calling (heteroplasmic mutations)
- Contamination detection
- mtDNA Cancer Studies
- Next-Generation Sequencing / Third-Generation Sequencing
- Variant Calling
- Quality Control
- Genetics/Population genetics
External Collaborations
Courses
SS 2023
WS 2022/2023
SS 2022
WS 2021/2022
Publications
2024 (1)
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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
2023 (3)
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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
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Koller A, Lamina C, Brandl C, Zimmermann ME, Stark KJ, Weissensteiner H, Würzner R, Heid IM, Kronenberg F:
Systemic evidence for mitochondrial dysfunction in age-related macular degeneration as revealed by mtDNA copy number measurements in peripheral blood.
Int. J. Mol. Sci.
24:, 2023. PMID:
38003595
Journal Article
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Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A:
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.
Brain
146:2753-2765, 2023. PMID:
36478228
Journal Article
2022 (5)
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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
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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
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Bello X, Pardo-Seco J, Gómez-Carballa A, Weissensteiner H, Martinón-Torres F, Salas A:
CovidPhy: A tool for phylogeographic analysis of SARS-CoV-2 variation.
Environ. Res.
204:111909, 2022. PMID:
34419470
Journal Article
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Lüth T, Schaake S, Grünewald A, May P, Trinh J, Weissensteiner H:
Benchmarking low-frequency variant calling with long-read data on mitochondrial DNA.
Front. Genet.
13:887644, 2022. PMID:
35664331
Journal Article
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Aboulmaouahib B, Kastenmüller G, Suhre K, Zöllner S, Weissensteiner H, Prehn C, Adamski J, Gieger C, Wang-Sattler R, Lichtner P, Strauch K, Flaquer A:
First mitochondrial genome-wide association study with metabolomics.
Hum. Mol. Genet.
31:3367-3376, 2022. PMID:
34718574
Journal Article
2021 (6)
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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
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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
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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
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Kloss-Brandstätter A, Summerer M, Horst D, Horst B, Streiter G, Raschenberger J, Kronenberg F, Sanguansermsri T, Horst J, Weissensteiner H:
An in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia.
Sci. Rep.
11:10816, 2021. PMID:
34031453
Journal Article
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Latzko L, Schöpf B, Weissensteiner H, Fazzini F, Fendt L, Steiner E, Bruckmoser E, Schäfer G, Moncayo RC, Klocker H, Laimer J:
Implications of standardized uptake values of oral squamous cell carcinoma in PET-CT on prognosis, tumor characteristics and mitochondrial DNA heteroplasmy.
Cancers (Basel)
13:2273, 2021. PMID:
34068489
Journal Article
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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
2020 (4)
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Schöpf B, Weissensteiner H, Schäfer G, Fazzini F, Charoentong P, Naschberger A, Rupp B, Fendt L, Bukur V, Giese I, Sorn P, Sant'Anna-Silva AC, Iglesias-Gonzalez J, Sahin U, Kronenberg F, Gnaiger E, Klocker H:
OXPHOS remodeling in high-grade prostate cancer involves mtDNA mutations and increased succinate oxidation.
Nat. Commun.
11:1487, 2020. PMID:
32198407
Journal Article
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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
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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
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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 (2)
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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
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Fazzini F, Lamina C, Fendt L, Schultheiss UT, Kotsis F, Hicks AA, Meiselbach H, Weissensteiner H, Forer L, Krane V, Eckardt KU, Köttgen A, Kronenberg F, GCKD Investigators:
Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease.
Kidney Int.
96:480-488, 2019. PMID:
31248648
Journal Article
2017 (1)
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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
2016 (3)
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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
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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
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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
2015 (5)
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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
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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
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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
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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
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Kehdy FS, Gouveia MH, Machado M, Magalhães WC, Horimoto AR, Horta BL, Moreira RG, Leal TP, Scliar MO, Soares-Souza GB, Rodrigues-Soares F, Araújo GS, Zamudio R, Sant Anna HP, Santos HC, Duarte NE, Fiaccone RL, Figueiredo CA, Silva TM, Costa GN, Beleza S, Berg DE, Cabrera L, Debortoli G, Duarte D, Ghirotto S, Gilman RH, Gonçalves VF, Marrero AR, Muniz YC, Weissensteiner H, Yeager M, Rodrigues LC, Barreto ML, Lima-Costa MF, Pereira AC, Rodrigues MR, Tarazona-Santos E, Brazilian EPIGEN Project Consortium:
Origin and dynamics of admixture in Brazilians and its effect on the pattern of deleterious mutations.
Proc. Natl. Acad. Sci. U. S. A.
112:8696-8701, 2015. PMID:
26124090
Journal Article
2014 (3)
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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
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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
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Lamina C, Linsenmeyer J, Weissensteiner H, Kollerits B, Meisinger C, Rantner B, Stöckl D, Stadler M, Klein-Weigel P, Peters A, Fraedrich G, Kronenberg F:
Correlation between a positive family risk score and peripheral artery disease in one case-control and two population-based studies.
Atherosclerosis
237:243-250, 2014. PMID:
25259422
Journal Article
2013 (1)
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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 (2)
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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
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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)
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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)
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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
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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)
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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