Genome Informatics
We develop and use innovative informatics approaches like machine learning technologies to advance our understanding of genomics.
Lead
Assistant Professor of Genome Informatics
+43 512 9003 70562
lukas.forer@i-med.ac.at
Co-Lead
Professor of Computational Genomics
+43 512 9003 70579
sebastian.schoenherr@i-med.ac.at
Team
Bachelor Student
Diploma Student
Diploma Student
Diploma Student
Genepi Investigators
Research Objectives
Cloud Computing for Genomics: Harnessing the power of cloud computing to enhance storage, accessibility, and processing of large-scale genomic datasets. Improving scalability and collaboration through cloud-based platforms. (see Cloudgene)
Precision Medicine: Customizing medical approaches by leveraging genomic information to predict the risk of diseases for individuals. (see pgs-calc)
Data Integration and Visualization: Developing user-friendly tools to effectively combine and display complex genomic data, supporting researchers in making informed decisions. see rsq-browser)
Reproducible Science: Promoting reproducibility in genomics research by establishing transparent methodologies, documenting data analysis pipelines, and advocating for open science practices. (see nf-test)
Projects
Cooperations
- Eurac Research Bozen/Bolzano (Christian Fuchsberger)
- University of Innsbruck (Günther Specht)
- University of Michigan (Gonçalo Abecasis, Albert Smith, Michael Boehnke)
Consortia activities
- TOPMed
- HRC
- GenomeAsia
- GCKD
- ncRNAPain
- nonHFE
- ApoA-IV-GWAS
- HEVACC
Key Publications
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
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