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Sofer, T.

Publications and source records attributed to Sofer, T..

20 records · Page 2Linked to original sources

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We extend previous research by meta-analyzing genome-wide association studies of 1000 Genomes imputed variants in relation to pulmonary function in a multiethnic population of 90,715 individuals of European (N=60,552), African (N=8,429), Asian (N=9,959), and Hispanic/Latino (N=11,775) ethnicities. We identified over 50 novel loci at genome-wide significance in ancestry-specific and/or multiethnic meta-analyses. Recent fine mapping methods incorporating functional annotation, gene expression, and/or differences in linkage disequilibrium between ethnicities identified potential causal variants and genes at known and newly identified loci. Sixteen of the novel genes encode proteins with predicted or established drug targets, including KCNK2 and CDK12.

genetics↗

Integrated Computing And Tracking System For Centralized High-Throughput Genetic Analysis: A Case Study

The Genetic Analysis Center (GAC) of the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) developed an Integrated Computing and Tracking system (ICT) in order to perform genome-wide and other genetic association studies automatically and efficiently, while documenting all analysis specifications. This system provides easy-to-use analysis set-up and computing procedures, automatic reports, and analysis search functionality due to integration with an on-site database. In this paper we describe the ICT and demonstrate how it satisfies key principles of reproducible research, while respecting constraints and challenges arising from using very large, restricted access, human-subjects data. This case study may benefit other groups that have similar requirements for high-throughput analysis execution and management.

bioinformatics↗