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PennCNV

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A free software tool for copy number variation (CNV) detection from SNP genotyping arrays. PennCNV can handle signal intensity data from Illumina and Affymetrix arrays. With appropriate preparation of file format, it can also handle other types of SNP arrays and oligonucleotide arrays. PennCNV implements a hidden Markov model (HMM) that integrates multiple sources of information to infer CNV calls for individual genotyped samples. It differs from segmentation-based algorithm in that it considered SNP allelic ratio distribution as well as other factors, in addition to signal intensity alone. In addition, PennCNV can optionally utilize family information to generate family-based CNV calls by several different algorithms. Furthermore, PennCNV can generate CNV calls given a specific set of candidate CNV regions, through a validation-calling algorithm.

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PennCNV classification

PennCNV specifications

Software type:
Package/Module
Restrictions to use:
None
Operating system:
Unix/Linux
Computer skills:
Advanced
Maintained:
Yes
Interface:
Command line interface
Biological technology:
Illumina, Affymetrix
Programming languages:
C, Perl
Stability:
Stable

PennCNV distribution

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Publications

Institution(s)

Department of Genetics, Division of Human Genetics, Center for Applied Genomics, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA

Link to literature

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