Indexcov: fast coverage quality control for whole-genome sequencing.

Gigascience
Authors
Keywords
Abstract

The BAM and CRAM formats provide a supplementary linear index that facilitates rapid access to sequence alignments in arbitrary genomic regions. Comparing consecutive entries in a BAM or CRAM index allows one to infer the number of alignment records per genomic region for use as an effective proxy of sequence depth in each genomic region. Based on these properties, we have developed indexcov, an efficient estimator of whole-genome sequencing coverage to rapidly identify samples with aberrant coverage profiles, reveal large-scale chromosomal anomalies, recognize potential batch effects, and infer the sex of a sample. Indexcov is available at https://github.com/brentp/goleft under the MIT license.

Year of Publication
2017
Journal
Gigascience
Volume
6
Issue
11
Pages
1-6
Date Published
2017 11 01
ISSN
2047-217X
DOI
10.1093/gigascience/gix090
PubMed ID
29048539
PubMed Central ID
PMC5737511
Links
Grant list
R01 GM124355 / GM / NIGMS NIH HHS / United States
R01 HG006693 / HG / NHGRI NIH HHS / United States
U24 CA209999 / CA / NCI NIH HHS / United States