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Influences of rare copy-number variation on human complex traits

Publication: Journal Article

Hujoel, Margaux LA, Maxwell Sherman, Alison Barton, Ronen Mukamel, Vijay Sankaran, Chikashi Terao, and Po-Ru Loh. 2022. “Influences of Rare Copy-Number Variation on Human Complex Traits”. Cell 185 (22): 4233-4248.e27.

A saturated map of common genetic variants associated with human height

Publication: Journal Article

Yengo, Loic, Sailaja Vedantam, Eirini Marouli, Julia Sidorenko, Eric Bartell, Saori Sakaue, Marielisa Graff, et al. 2022. “A Saturated Map of Common Genetic Variants Associated With Human Height”. Nature.

New preprint on repeat polymorphisms influencing glaucoma and colorectal cancer risk

News: October 14, 2022

We are excited to share a new preprint, " Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer" (Mukamel*, Handsaker* et al.), which identifies variable-number-of-tandem-repeat (VNTR) polymorphisms that appear to generate the strongest known...

Paper on haplotype-informed CNV detection published in Cell

News: October 27, 2022

Margaux Hujoel's paper on haplotype-informed CNV detection (HI-CNV; Hujoel et al. 2022 Cell) is now published -- congratulations, Margaux! This work explores the phenotypic impact of rare copy number variation in the human genome, discovering many new ways in which genetic variation shapes human...