Manta: Rapid detection of structural variants and indels for clinical sequencing applications

BioRxiv : the Preprint Server for Biology
Xiaoyu ChenChristopher T Saunders

Abstract

Summary: We describe Manta, a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid clinical analysis, calling structural variants, medium-sized indels and large insertions on standard compute hardware in less than a tenth of the time that comparable methods require to identify only subsets of these variant types: for example NA12878 at 50x genomic coverage is analyzed in less than 20 minutes. Manta can discover and score variants based on supporting paired and split-read evidence, with scoring models optimized for germline analysis of diploid individuals and somatic analysis of tumor-normal sample pairs. Call quality is similar to or better than comparable methods, as determined by pedigree consistency of germline calls and comparison of somatic calls to COSMIC database variants. Manta consistently assembles a higher fraction of its calls to basepair resolution, allowing for improved downstream annotation and analysis of clinical significance. We provide Manta as a community resource to facilitate practical and routine structural variant analysis in clinical and research sequencing scenarios. Availability: Manta source code and Linux binaries are available from htt...Continue Reading

Related Concepts

Research
Genome
Tumor Tissue Sample
Nucleic Acid Sequencing
Genetic Pedigree
Genomics
Sequencing
Massively-Parallel Sequencing
Structure
Analysis

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