Article
A deep population reference panel of tandem repeat variation.
Nature communications - 23 Oct 2023
Ziaei Jam Helyaneh, Li Yang, DeVito Ross, Mousavi Nima, Ma Nichole, Lujumba Ibra, Adam Yagoub, Maksimov Mikhail, Huang Bonnie, Dolzhenko Egor, Qiu Yunjiang, Kakembo Fredrick Elishama, Joseph Habi, Onyido Blessing, Adeyemi Jumoke, Bakhtiari Mehrdad, Park Jonghun, Javadzadeh Sara, Jjingo Daudi, Adebiyi Ezekiel, Bafna Vineet, Gymrek Melissa
Abstract excerpt
Tandem repeats (TRs) represent one of the largest sources of genetic variation in humans and are implicated in a range of phenotypes. Here we present a deep characterization of TR variation based on high coverage whole genome sequencing from 3550 diverse individuals from the 1000 Genomes Project and H3Africa cohorts. We develop a method, EnsembleTR, to integrate genotypes from four separate methods resulting in...
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