Rare coding variant analysis for human diseases across biobanks and ancestriesLarge-scale sequencing has enabled unparalleled opportunities to investigate the role of rare coding variation in human phenotypic variability. Here, we present a pan-ancestry analysis of sequencing data from three large ...
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease 来自 学术范 喜欢 0 阅读量: 19 作者: ER Schiff,M Frampton,N Ben-Yosef,BE Avila,F Semplici,N Pontikos,SL Bloom,SA Mccartney,R Vega,LB Lovat 展开 摘要: Rare variants are thought to ...
. Of the 15 unique variants identified in stage 2, 3 were specific to the cross-ancestry analysis, whereas 12 reached genome-wide significance in both stages (Supplementary Table3). TheALDH2locus was driven by a missense variant (rs671, p.Glu504Lys), which is common in East Asian populati...
Whole-exome sequencing reveals that a rare variant of phospholipase D3 (PLD3(V232M)) segregates with Alzheimer’s disease status in two independent families and doubles risk for the disease in case–control series, and that several other PLD3 variants in
To date, the prevalence and impact of CDKN2A rare coding variants (RCV) in racial minority groups remain poorly characterized. We examined the role of CDKN2A RCVs on risk of PC among minority subjects. 关键词: CDKN2A, p16, p14ARF, germline variant, African Americans, Blacks, pancreatic cancer...
Association Results for Coding Region Variants and Risk of Large-Vessel Ischemic Stroke With Meta-analysis P < 5 × 10−4 Displayed View LargeDownload Supplement. eAppendix 1. Membership of the NHBLI Exome Sequencing Project (ESP) eAppendix 2. Exome Sequencing and Variant Calling e...
analysis by incorporating variant functional annotations. In gene-centric analysis, STAARpipeline groups coding and noncoding variants based on functional categories of genes and incorporate multiple functional annotations. In non-gene-centric analysis, in addition to fixed-size sliding window analysis, ...
We conclude that rs61757459 is a functional mutation that results in a truncated protein whose instability likely results in reduced serum vaspin levels.A rare variant (rs61757459) in vaspin coding for the stop codon p.R211X is related to lower circulating vaspin concentrations.Structure analysis ...
Multifactorial models developed for BRCA1/2 variant classification have proved very useful for delineating BRCA1/2 variants associated with very high risk of cancer, or with little clinical significance. Recent linkage of this quantitative assessment of risk to clinical management guidelines has provided...
Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs There is heightened interest in using next-generation sequencing technologies to identify rare variants that influence complex human diseases and traits. Meta-analysis is essential to this endeavor because large...