Computational and Digital Genomics

We develop computational tools to identify genetic risk factors associated with chronic diseases, using large biobank-scale datasets.

Lead

Sebastian Schönherr, Dr.techn.
Professor of Digital and Computational Genetics

+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at

About

Our current research focuses on complex genomic regions, such as variable number tandem repeats (VNTRs), to elucidate their contribution to missing heritability, with a particular emphasis on the LPA VNTR. Our institute also develops and maintain widely used community resources, including the Michigan Imputation Server, a core infrastructure for the global GWAS community, and the mitochondrial DNA classification tool Haplogrep.

Team

Silvia Di Maio, PhD
Postdoc

+43 512 9003 70567
silvia.di-maio@i-med.ac.at
Open Postdoc Position
Postdoc

Open PhD Position
PhD Student

Laura Schöttle
Research Assistant

+43 512 9003 70577
laura.schoettle@i-med.ac.at
Daniel Sucur
Research Assistant

daniel.sucur@i-med.ac.at

Students

Fynn Flackus
Diploma Student

fynn.flackus@student.i-med.ac.at
Maximilian Müller
Diploma Student

maxi.mueller@student.i-med.ac.at
Fatri Pollozhani
Diploma Student

fatri.usejni@student.i-med.ac.at
Marinus Speth
Diploma Student

marinus.speth@student.i-med.ac.at
Niklas Thomschke
Diploma Student

niklas.thomschke@student.i-med.ac.at


The students are co-supervised by Johanna-Schachtl-Rieß and Silvia Di Maio.

We are always seeking highly motivated students. If you’re interested in joining our team and contributing to innovative research, please reach out!

Funding

AISCM Faculty

Please take a look at our Faculty of AI and Scientific Computing at MUI. We are proud to have been involved in founding this initiative, which aims to bring together researchers and medical doctors across disciplines.

News

Genepi Investigators

We work closely with many researchers at Genepi.

Ongoing Projects

The Computational Genomics group maintains a close collaboration with the Genome Informatics team. These projects are listed in both groups.

Cooperations

Consortia activities

Key Publications

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

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

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

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

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

GenomeAsia100K Consortium: The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature 576:106-111, 2019. PMID: 31802016   Journal Article

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