Medical and Population Genetics

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

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

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.31076.DOIGoogle ScholarPubMed

Fuchsberger C, Flannick J, Teslovich TM, et al. The genetic architecture of type 2 diabetes. Nature. 2016;536(7614):41-7. doi:10.1038/nature18642.DOIGoogle ScholarPubMed

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.3510.DOIGoogle ScholarPubMed

Bulik-Sullivan BK, Loh P-R, 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.3211.DOIGoogle ScholarPubMed

Loh P-R, 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.3190.DOIGoogle ScholarPubMed

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.3186.DOIGoogle ScholarPubMed