title: The ICR1000 UK exome series: a resource of gene variation in an outbred population.
abstract: To enhance knowledge of gene variation in outbred populations, and to provide a dataset with utility in research and clinical genomics, we performed exome sequencing of 1,000 UK individuals from the general population and applied a high-quality analysis pipeline that includes high sensitivity and specificity for indel detection. Each UK individual has, on average, 21,978 gene variants including 160 rare (0.1%) variants not present in any other individual in the series. These data provide a baseline expectation for gene variation in an outbred population. Summary data of all 295,391 variants we detected are included here and the individual exome sequences are available from the European Genome-phenome Archive as the ICR1000 UK exome series. Furthermore, samples and other phenotype and experimental data for these individuals are obtainable through application to the 1958 Birth Cohort committee.
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Elise
authors.initials: E
authors.lastname: Ruark
authors.affiliation: Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK.
authors.forename: Márton
authors.initials: M
authors.lastname: Münz
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Anthony
authors.initials: A
authors.lastname: Renwick
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Clarke
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Emma
authors.initials: E
authors.lastname: Ramsay
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Sandra
authors.initials: S
authors.lastname: Hanks
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Shazia
authors.initials: S
authors.lastname: Mahamdallie
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Elliott
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Sheila
authors.initials: S
authors.lastname: Seal
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
authors.forename: Ann
authors.initials: A
authors.lastname: Strydom
authors.affiliation: Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK.
authors.forename: Lunter
authors.initials: L
authors.lastname: Gerton
authors.affiliation: Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, SM2 5PT, UK.
authors.forename: Nazneen
authors.initials: N
authors.lastname: Rahman
keywords: NGS; exome; exome sequencing; gene variation; next-generation sequencing; population genetics; variant
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