Improving bioinformatic pipelines for exome variant calling

Exome sequencing analysis is a cost-effective approach for identifying variants in coding regions. However, recognizing the relevant single nucleotide variants, small insertions and deletions remains a challenge for many researchers and diagnostic laboratories typically do not have access to the bioinformatic analysis pipelines necessary for clinical application. The Atlas2 suite, recently released by Baylor Genome Center, is designed to be widely accessible, runs on desktop computers but is scalable to computational clusters, and performs comparably with other popular variant callers. Atlas2 may be an accessible alternative for data processing when a rapid solution for variant calling is required. See research article http://www.biomedcentral.com/1471-2105/13/8.

• Publication year

  2012

• Venue

  Genome Medicine

• Publication date

  2012-01-01

• Fields of study

  Biology, Medicine, Computer Science

• Identifiers
  DOI 10.1186/gm306PMID 22289516PMCID 3334555
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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