Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.

Yan SunFengxia LiuChunna FanYaoshen WangLijie SongZhonghai FangRui HanZhonghua WangXiaodan WangZiying YangZhenpeng XuJiguang PengChaonan ShiHongyun ZhangWei DongHui HuangYun LiYanqun LeJun SunZhiyu Peng

Published in: BMC medical genomics (2021)

The current standard of a mean depth of 40X may be sufficient for SNV/indel detection and identification of most CNVs. It would be advisable for clinical scientists to determine the range of sensitivity and PPV for different classes of variants for a particular WGS pipeline, which would be useful when interpreting and delivering clinical reports.

Keyphrases

emergency department
copy number
sensitive detection