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Population-specific genetic variation in large sequencing data sets: why more data is still better.

ABSTRACT: We have generated a next-generation whole-exome sequencing data set of 2628 participants of the population-based Rotterdam Study cohort, comprising 669?737 single-nucleotide variants and 24?019 short insertions and deletions. Because of broad and deep longitudinal phenotyping of the Rotterdam Study, this data set permits extensive interpretation of genetic variants on a range of clinically relevant outcomes, and is accessible as a control data set. We show that next-generation sequencing data sets yield a large degree of population-specific variants, which are not captured by other available large sequencing efforts, being ExAC, ESP, 1000G, UK10K, GoNL and DECODE.

SUBMITTER: van Rooij JGJ

PROVIDER: S-EPMC5602011 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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Population-specific genetic variation in large sequencing data sets: why more data is still better.

van Rooij Jeroen G J JGJ Jhamai Mila M Arp Pascal P PP Nouwens Stephan C A SCA Verkerk Marijn M Hofman Albert A Ikram M Arfan MA Verkerk Annemieke J AJ van Meurs Joyce B J JBJ Rivadeneira Fernando F Uitterlinden André G AG Kraaij Robert R

European journal of human genetics : EJHG 20170719 10

We have generated a next-generation whole-exome sequencing data set of 2628 participants of the population-based Rotterdam Study cohort, comprising 669 737 single-nucleotide variants and 24 019 short insertions and deletions. Because of broad and deep longitudinal phenotyping of the Rotterdam Study, this data set permits extensive interpretation of genetic variants on a range of clinically relevant outcomes, and is accessible as a control data set. We show that next-generation sequencing data se ...[more]

PMID: 28905877

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