Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.

Curr Protoc Hum Genet
Authors
Keywords
Abstract

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 analysis, and has been validated using genomic data from the 1000 Genomes Project. This approach adopts non-size-selected mate-pair library (3∼8 kb) with 2∼3 Î¼g DNA as input, and requires only 30 million read-pairs (50 bp, equivalent to 1-fold base-coverage) for each sample. The complete procedure takes 13 days and the total cost is estimated to be less than $600 (USD) per sample. © 2018 by John Wiley & Sons, Inc.

Year of Publication
2018
Journal
Curr Protoc Hum Genet
Volume
96
Pages
8.18.1-8.18.16
Date Published
2018 01 24
ISSN
1934-8258
DOI
10.1002/cphg.51
PubMed ID
29364520
PubMed Central ID
PMC5924704
Links
Grant list
P01 GM061354 / GM / NIGMS NIH HHS / United States