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

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.

SUBMITTER: Pedersen BS

PROVIDER: S-EPMC5737511 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature

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

Pedersen Brent S BS Collins Ryan L RL Talkowski Michael E ME Quinlan Aaron R AR

GigaScience 20171101 11

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 cov ...[more]

PMID: 29048539

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