共查询到5条相似文献,搜索用时 0 毫秒
1.
2.
3.
Ellen Knierim Hiromi Hirata Nicole?I. Wolf Susanne Morales-Gonzalez Gudrun Schottmann Yu Tanaka Sabine Rudnik-Sch?neborn Mickael Orgeur Klaus Zerres Stefanie Vogt Anne van?Riesen Esther Gill Franziska Seifert Angelika Zwirner Janbernd Kirschner Hans?Hilmar Goebel Christoph Hübner Sigmar Stricker David Meierhofer Werner Stenzel Markus Schuelke 《American journal of human genetics》2016,98(3):473-489
4.
Adam C. Naj Honghuang Lin Badri N. Vardarajan Simon White Daniel Lancour Yiyi Ma Michael Schmidt Fangui Sun Mariusz Butkiewicz William S. Bush Brian W. Kunkle John Malamon Najaf Amin Seung Hoan Choi Kara L. Hamilton-Nelson Sven J. van der Lee Namrata Gupta Daniel C. Koboldt Anita L. DeStefano 《Genomics》2019,111(4):808-818
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 call format files (VCFs) from each pipeline, and developed and implemented a novel protocol, termed “consensus calling,” to combine genotype calls from both pipelines into a single high-quality set. QC was applied to autosomal bi-allelic SNVs and indels, and included pipeline-recommended QC filters, variant-level QC, and sample-level QC. Low-quality variants or genotypes were excluded, and sample outliers were noted. Quality was assessed by examining Mendelian inconsistencies (MIs) among 67 parent-offspring pairs, and MIs were used to establish additional genotype-specific filters for GATK calls. After QC, 578 subjects remained. Pipeline-specific QC excluded ~12.0% of GATK and 14.5% of Atlas SNVs. Between pipelines, ~91% of SNV genotypes across all QCed variants were concordant; 4.23% and 4.56% of genotypes were exclusive to Atlas or GATK, respectively; the remaining ~0.01% of discordant genotypes were excluded. For indels, variant-level QC excluded ~36.8% of GATK and 35.3% of Atlas indels. Between pipelines, ~55.6% of indel genotypes were concordant; while 10.3% and 28.3% were exclusive to Atlas or GATK, respectively; and ~0.29% of discordant genotypes were. The final WGS consensus dataset contains 27,896,774 SNVs and 3,133,926 indels and is publicly available. 相似文献