Modeling read counts for CNV detection in exome sequencing data

DOI10.2202/1544-6115.1732zbMATH Open1296.92049OpenAlexW2011874456WikidataQ30574430 ScholiaQ30574430MaRDI QIDQ458185FDOQ458185

Authors: Alena Myšičková, Ruping Sun, Vera Kalscheuer, Stefan A. Haas, Michael I. Love, Martin Vingron 

Publication date: 7 October 2014

Published in: Statistical Applications in Genetics and Molecular Biology (Search for Journal in Brave)

Full work available at URL: http://europepmc.org/articles/pmc3517018

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zbMATH Keywords

HMMhidden Markov modelCNVcopy number variantexome sequencingtargeted sequencing

Mathematics Subject Classification ID

General biostatistics (92B15) Genetics and epigenetics (92D10)

Cites Work

• Hidden Markov models approach to the analysis of array CGH data

Cited In (5)

• MGP-HMM: detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts
• Allele-specific copy number estimation by whole exome sequencing
• Modeling the next generation sequencing read count data for DNA copy number variant study
• Assignment of endogenous retrovirus integration sites using a mixture model
• The number of candidate variants in exome sequencing for Mendelian disease under no genetic heterogeneity

Uses Software

• R
• Bioconductor
• edgeR
• DEseq
• BioHMM
• CNV-seq
• ExomeCNV

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