forestSV: structural variant discovery through statistical learning

Nat Methods. 2012 Jul 1;9(8):819-21. doi: 10.1038/nmeth.2085.

Abstract

Detecting genomic structural variants from high-throughput sequencing data is a complex and unresolved challenge. We have developed a statistical learning approach, based on Random Forests, that integrates prior knowledge about the characteristics of structural variants and leads to improved discovery in high-throughput sequencing data. The implementation of this technique, forestSV, offers high sensitivity and specificity coupled with the flexibility of a data-driven approach.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Data Interpretation, Statistical
  • Genomic Structural Variation / genetics*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Sensitivity and Specificity