Ontology highlight
ABSTRACT:
SUBMITTER: Dong Z
PROVIDER: S-EPMC5924704 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Current protocols in human genetics 20180124
Balanced chromosomal rearrangements (or balanced chromosome abnormalities, BCAs) are common chromosomal structural variants. Emerging studies have demonstrated the feasibility of using whole-genome sequencing (WGS) for detection of BCA-associated breakpoints, but the requirement for a priori knowledge of the rearranged regions from G-banded chromosome analysis limits its application. The protocols described here are based on low-pass WGS for detecting BCA events independent from chromosome analy ...[more]