癌症科学与治疗

英国国家医疗服务体系中的下一代测序：与桑格完全一致的流程

Abstract

Kevin Blighe?Nick Beauchamp?K Elizabeth Allen?Isabel M Nesbitt?Jennifer Dawe?Darren Grafham ? Ann Dalton

??????? (NGS) ?????????????????????????????????????????NGS ??????????????????????????? NGS ???????????????????????????????????????????? Sanger ????????????

??????????? NGS ????????? Sanger ??? 341 ????????????????????????? (National Health Service England) ??????????????????????????? NGS ?????????????? http://www.sheffieldchildrens.nhs.uk/our-services/sheffield-diagnostic-genetics-service/?????????? Broad Institute ? GATK ???“????”??????????????????????????????????????????????????????????????????????????30X ???????????? >99.9%?

??????????????????????????????????????? NGS ????????????????????