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The ICR1000 UK exome series: a resource of gene variation in an outbred population
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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
F1000Research
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706061/ https://www.ncbi.nlm.nih.gov/pubmed/26834991 http://dx.doi.org/10.12688/f1000research.7049.1 |
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author | Ruark, Elise Münz, Márton Renwick, Anthony Clarke, Matthew Ramsay, Emma Hanks, Sandra Mahamdallie, Shazia Elliott, Anna Seal, Sheila Strydom, Ann Gerton, Lunter Rahman, Nazneen |
author_facet | Ruark, Elise Münz, Márton Renwick, Anthony Clarke, Matthew Ramsay, Emma Hanks, Sandra Mahamdallie, Shazia Elliott, Anna Seal, Sheila Strydom, Ann Gerton, Lunter Rahman, Nazneen |
author_sort | Ruark, Elise |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-4706061 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | F1000Research |
record_format | MEDLINE/PubMed |
spelling | pubmed-47060612016-01-29 The ICR1000 UK exome series: a resource of gene variation in an outbred population Ruark, Elise Münz, Márton Renwick, Anthony Clarke, Matthew Ramsay, Emma Hanks, Sandra Mahamdallie, Shazia Elliott, Anna Seal, Sheila Strydom, Ann Gerton, Lunter Rahman, Nazneen F1000Res Research Article 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. F1000Research 2015-09-22 /pmc/articles/PMC4706061/ /pubmed/26834991 http://dx.doi.org/10.12688/f1000research.7049.1 Text en Copyright: © 2015 Ruark E et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Ruark, Elise Münz, Márton Renwick, Anthony Clarke, Matthew Ramsay, Emma Hanks, Sandra Mahamdallie, Shazia Elliott, Anna Seal, Sheila Strydom, Ann Gerton, Lunter Rahman, Nazneen The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title_full | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title_fullStr | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title_full_unstemmed | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title_short | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
title_sort | icr1000 uk exome series: a resource of gene variation in an outbred population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706061/ https://www.ncbi.nlm.nih.gov/pubmed/26834991 http://dx.doi.org/10.12688/f1000research.7049.1 |
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