Your browser doesn't support javascript.
loading
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.
Afiliación
  • Ruark E; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Münz M; Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK.
  • Renwick A; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Clarke M; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Ramsay E; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Hanks S; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Mahamdallie S; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Elliott A; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Seal S; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Strydom A; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, SM2 5NG, UK.
  • Gerton L; Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK.
  • Rahman N; 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.
F1000Res ; 4: 883, 2015.
Article en En | MEDLINE | ID: mdl-26834991
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.
Palabras clave

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: F1000Res Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: F1000Res Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido