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The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved]

Authors :
Elise Ruark
Márton Münz
Anthony Renwick
Matthew Clarke
Emma Ramsay
Sandra Hanks
Shazia Mahamdallie
Anna Elliott
Sheila Seal
Ann Strydom
Lunter Gerton
Nazneen Rahman
Source :
F1000Research, Vol 4 (2015)
Publication Year :
2015
Publisher :
F1000 Research Ltd, 2015.

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.

Details

Language :
English
ISSN :
20461402
Volume :
4
Database :
Directory of Open Access Journals
Journal :
F1000Research
Publication Type :
Academic Journal
Accession number :
edsdoj.39ea75c11ec3497ab2d36b424570f670
Document Type :
article
Full Text :
https://doi.org/10.12688/f1000research.7049.1