Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Brief Bioinform. 2010 Jan;11(1):3-14. doi: 10.1093/bib/bbp058. Epub 2010 Jan 6.

Genome variation discovery with high-throughput sequencing data.

Author information

  • 1Computer Science, MIT, USA.

Abstract

The advent of high-throughput sequencing (HTS) technologies is enabling sequencing of human genomes at a significantly lower cost. The availability of these genomes is hoped to enable novel medical diagnostics and treatment, specific to the individual, thus launching the era of personalized medicine. The data currently generated by HTS machines require extensive computational analysis in order to identify genomic variants present in the sequenced individual. In this paper, we overview HTS technologies and discuss several of the plethora of algorithms and tools designed to analyze HTS data, including algorithms for read mapping, as well as methods for identification of single-nucleotide polymorphisms, insertions/deletions and large-scale structural variants and copy-number variants from these mappings.

PMID:
20053733
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for HighWire
    Loading ...
    Write to the Help Desk