Alzheimer's Disease Sequencing Project release 4 whole genome sequencing dataset.
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Leung Yuk Yee, Lee Wan-Ping, Kuzma Amanda B, Nicaretta Heather, Valladares Otto, Gangadharan Prabhakaran, Qu Liming, Zhao Yi, Ren Youli, Cheng Po-Liang, Kuksa Pavel P, Wang Hui, White Heather, Katanic Zivadin, Bass Lauren, Saravanan Naveen, Greenfest-Allen Emily, Kirsch Maureen, Cantwell Laura, Iqbal Taha, Wheeler Nicholas R, Farrell John J, Zhu Congcong, Turner Shannon L, Gunasekaran Tamil I, Mena Pedro R, Jin Yumi, Carter Luke, Alzheimer's Disease Sequencing Project, Zhang Xiaoling, Vardarajan Badri N, Toga Arthur, Cuccaro Michael, Hohman Timothy J, Bush William S, Naj Adam C, Martin Eden, Dalgard Clifton L, Kunkle Brian W, Farrer Lindsay A, Mayeux Richard P, Haines Jonathan L, Pericak-Vance Margaret A, Schellenberg Gerard D, Wang Li-San
Аннотация
METHODS: The Genome Center for Alzheimer's Disease (GCAD) uniformly processed WGS from 36,361 ADSP samples, including 35,014 genetically unique participants of which 45% are from non-European ancestry, across 17 cohorts in 14 countries in this fourth release (R4).
RESULTS: This sequencing effort identified 387 million bi-allelic variants, 42 million short insertions/deletions, and 6.8 million structural variants. Annotations and quality control data are available for all variants and samples. Additionally, detailed phenotypes from 15,927 participants across 10 domains are also provided. A linkage disequilibrium panel was created using unrelated AD cases and controls.
DISCUSSION: Researchers can access and analyze the genetic data via the National Institute on Aging Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) Data Sharing Service, the VariXam, or NIAGADS GenomicsDB.
HIGHLIGHTS: We detailed the genetic architecture and quality of the Alzheimer's Disease Sequencing Project release 4 whole genome sequences. We identified 435 million single nucleotide polymorphisms, insertions and deletions, and structural variants from diverse genomes. We harmonized extensive phenotypes, linkage disequilibrium reference panel on subset of samples. Data is publicly available at NIAGADS Data Storage Site, variants and annotations are browsable on two different websites.