Medical and Population Genetics | Broad Institute

Medical and Population Genetics

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

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.

The genetic architecture of type 2 diabetes.

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.

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

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.

Efficient Bayesian mixed-model analysis increases association power in large cohorts.

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.

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.

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.

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans.

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.