The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved]
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 sp...
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doaj-39ea75c11ec3497ab2d36b424570f6702020-11-25T03:50:52ZengF1000 Research LtdF1000Research2046-14022015-09-01410.12688/f1000research.7049.17589The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved]Elise Ruark0Márton Münz1Anthony Renwick2Matthew Clarke3Emma Ramsay4Sandra Hanks5Shazia Mahamdallie6Anna Elliott7Sheila Seal8Ann Strydom9Lunter Gerton10Nazneen Rahman11Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKWellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKDivision of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UKWellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UKCancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, SM2 5PT, UKTo 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.http://f1000research.com/articles/4-883/v1Evolutionary/Comparative GeneticsGenomics |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Elise Ruark Márton Münz Anthony Renwick Matthew Clarke Emma Ramsay Sandra Hanks Shazia Mahamdallie Anna Elliott Sheila Seal Ann Strydom Lunter Gerton Nazneen Rahman |
spellingShingle |
Elise Ruark Márton Münz Anthony Renwick Matthew Clarke Emma Ramsay Sandra Hanks Shazia Mahamdallie Anna Elliott Sheila Seal Ann Strydom Lunter Gerton Nazneen Rahman The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] F1000Research Evolutionary/Comparative Genetics Genomics |
author_facet |
Elise Ruark Márton Münz Anthony Renwick Matthew Clarke Emma Ramsay Sandra Hanks Shazia Mahamdallie Anna Elliott Sheila Seal Ann Strydom Lunter Gerton Nazneen Rahman |
author_sort |
Elise Ruark |
title |
The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
title_short |
The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
title_full |
The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
title_fullStr |
The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
title_full_unstemmed |
The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
title_sort |
icr1000 uk exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved] |
publisher |
F1000 Research Ltd |
series |
F1000Research |
issn |
2046-1402 |
publishDate |
2015-09-01 |
description |
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. |
topic |
Evolutionary/Comparative Genetics Genomics |
url |
http://f1000research.com/articles/4-883/v1 |
work_keys_str_mv |
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