cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data
Author(s)
Bellos, E
Johnson, MR
Coin LJ
Type
Journal Article
Abstract
Recent advances in sequencing technologies provide the means for identifying copy number variation (CNV) at an unprecedented resolution. A single next-generation sequencing experiment offers several features that can be used to detect CNV, yet current methods do not incorporate all available signatures into a unified model. cnvHiTSeq is an integrative probabilistic method for CNV discovery and genotyping that jointly analyzes multiple features at the population level. By combining evidence from complementary sources, cnvHiTSeq achieves high genotyping accuracy and a substantial improvement in CNV detection sensitivity over existing methods, while maintaining a low false discovery rate. cnvHiTSeq is available at http://sourceforge.net/projects/cnvhitseq
Date Issued
2012-12-22
Date Acceptance
2012-12-22
Citation
Genome Biology, 2012, 13 (12)
ISSN
1474-7596
Publisher
BioMed Central
Journal / Book Title
Genome Biology
Volume
13
Issue
12
Copyright Statement
© 2013 Bellos et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Sponsor
Biotechnology and Biological Sciences Research Council (BBSRC)
Grant Number
BB/H024808/1
Subjects
Science & Technology
Life Sciences & Biomedicine
Biotechnology & Applied Microbiology
Genetics & Heredity
HUMAN GENOME
STRUCTURAL VARIATION
SCALE
MAP
DELETIONS
WILD
SNPS
DNA Copy Number Variations
Genomics
Genotyping Techniques
High-Throughput Nucleotide Sequencing
Humans
Models, Statistical
Sequence Analysis, DNA
05 Environmental Sciences
06 Biological Sciences
08 Information And Computing Sciences
Bioinformatics
Publication Status
Published
Article Number
R120
Date Publish Online
2012-12-22