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CopyMap: localization and calling of copy number variation by joint analysis of hybridization data from multiple individuals
Author(s) -
Sebastian Zöllner
Publication year - 2010
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btq515
Subject(s) - copy number variation , computer science , documentation , variation (astronomy) , the internet , code (set theory) , world wide web , biology , programming language , genetics , genome , gene , physics , astrophysics , set (abstract data type)
The program package CopyMap identifies copy number variation from oligo-hybridization and CGH data. Using a time-dependent hidden Markov model to combine evidence of copy number variants (CNVs) across multiple carriers, CopyMap is substantially more accurate than standard hidden Markov methods in identifying CNVs and calling CNV-carriers. Moreover, CopyMap provides more precise estimates of CNV-boundaries.

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