期刊
G3-GENES GENOMES GENETICS
卷 4, 期 1, 页码 63-65出版社
GENETICS SOCIETY AMERICA
DOI: 10.1534/g3.113.008797
关键词
high-throughput sequencing; copy number variation; genome variation annotation; insertion/deletion
资金
- University of Toronto McLaughlin Centre
- Genome Canada
- Canadian Institutes for Health Research (CIHR)
- J. Craig Venter Family Foundation, La Jolla, CA
We observed that current high-throughput sequencing approaches only detected a fraction of the full size-spectrum of insertions, deletions, and copy number variants compared with a previously published, Sanger-sequenced human genome. The sensitivity for detection was the lowest in the 100- to 10,000-bp size range, and at DNA repeats, with copy number gains harder to delineate than losses. We discuss strategies for discovering the full spectrum of genetic variation necessary for disease association studies.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据