Medical and Population Genetics Program

Mono- and biallelic variant effects on disease at biobank scale. Nature. 2023. doi:10.1038/s41586-022-05420-7PubMedGoogle ScholarDOI

FinnGen provides genetic insights from a well-phenotyped isolated population. Nature. 2023. doi:10.1038/s41586-022-05473-8PubMedGoogle ScholarDOI

Tanskanen T, van den Berg L, Välimäki N, et al. Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci. Int J Cancer. 2018;142(3):540-546. doi:10.1002/ijc.31076PubMedGoogle ScholarDOI

Fuchsberger C, Flannick J, Teslovich TM, et al. The genetic architecture of type 2 diabetes. Nature. 2016;536(7614):41-7. doi:10.1038/nature18642Google ScholarDOIPubMed

Boettger LM, Salem RM, Handsaker RE, et al. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nat Genet. 2016;48(4):359-66. doi:10.1038/ng.3510Google ScholarDOIPubMed

Bulik-Sullivan BK, Loh PR, Finucane HK, et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat Genet. 2015;47(3):291-5. doi:10.1038/ng.3211Google ScholarDOIPubMed

Loh PR, Tucker G, Bulik-Sullivan BK, et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat Genet. 2015;47(3):284-90. doi:10.1038/ng.3190Google ScholarDOIPubMed

Do R, Balick D, Li H, Adzhubei I, Sunyaev S, Reich D. No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans. Nat Genet. 2015;47(2):126-31. doi:10.1038/ng.3186Google ScholarDOIPubMed