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

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العنوان: The ICR1000 UK exome series: a resource of gene variation in an outbred population [version 1; referees: 2 approved]
المؤلفون: Elise Ruark, Márton Münz, Anthony Renwick, Matthew Clarke, Emma Ramsay, Sandra Hanks, Shazia Mahamdallie, Anna Elliott, Sheila Seal, Ann Strydom, Lunter Gerton, Nazneen Rahman
المصدر: F1000Research, Vol 4 (2015)
بيانات النشر: F1000 Research Ltd, 2015.
سنة النشر: 2015
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Evolutionary/Comparative Genetics, Genomics, Medicine, Science
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2046-1402
Relation: http://f1000research.com/articles/4-883/v1; https://doaj.org/toc/2046-1402
DOI: 10.12688/f1000research.7049.1
URL الوصول: https://doaj.org/article/39ea75c11ec3497ab2d36b424570f670
رقم الأكسشن: edsdoj.39ea75c11ec3497ab2d36b424570f670
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20461402
DOI:10.12688/f1000research.7049.1