Article
Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project.
Genomics - 1 Jul 2019
Naj Adam C, Lin Honghuang, Vardarajan Badri N, White Simon, Lancour Daniel, Ma Yiyi, Schmidt Michael, Sun Fangui, Butkiewicz Mariusz, Bush William S, Kunkle Brian W, Malamon John, Amin Najaf, Choi Seung Hoan, Hamilton-Nelson Kara L, van der Lee Sven J, Gupta Namrata, Koboldt Daniel C, Saad Mohamad, Wang Bowen, Nato Alejandro Q, Sohi Harkirat K, Kuzma Amanda, Wang Li-San, Cupples L Adrienne, van Duijn Cornelia, Seshadri Sudha, Schellenberg Gerard D, Boerwinkle Eric, Bis Joshua C, Dupuis Josée, Salerno William J, Wijsman Ellen M, Martin Eden R, DeStefano Anita L
Abstract excerpt
The Alzheimer's Disease Sequencing Project (ADSP) performed whole genome sequencing (WGS) of 584 subjects from 111 multiplex families at three sequencing centers. Genotype calling of single nucleotide variants (SNVs) and insertion-deletion variants (indels) was performed centrally using GATK-HaplotypeCaller and Atlas V2. The ADSP Quality Control (QC) Working Group applied QC protocols to project-level variant...
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