Before progressing from "exomes" to "genomes"… don't forget splicing variants.
作者信息
Shaikh Samiha S, Nahorski Michael S, Rai Harjeet, Woods C Geoffrey
机构信息
Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge, CB2 0XY, United Kingdom.
East Anglian Medical Genetics Service, Genetics Laboratories, Addenbrooke's Treatment Centre, Cambridge University Hospitals, Hills Road, Cambridge, CB2 0QQ, United Kingdom.
出版信息
Eur J Hum Genet. 2018 Nov;26(11):1559-1562. doi: 10.1038/s41431-018-0214-3. Epub 2018 Jul 12.
Abstract
摘要
Zotero 插件