Open Access Highly Accessed Methodology article

Copy number variation genotyping using family information

Jen-hwa Chu1*, Angela Rogers13, Iuliana Ionita-Laza5, Katayoon Darvishi2, Ryan E Mills6, Charles Lee2 and Benjamin A Raby134

Author Affiliations

1 Channing Division of Network Medicine, Brigham and Women’s Hospital, Boston MA, USA

2 Department of Pathology, Molecular Genetic Research Unit, Brigham and Women’s Hospital, Boston MA, USA

3 Division of Pulmonary and Critical Care Medicine, Brigham and Women’s Hospital, Boston MA, USA

4 Center for Genomic Medicine, Brigham and Women’s Hospital, Boston MA, USA

5 Mailman School of Public Health, , NY, New York, USA

6 Department of Human Genetics, University of Michigan, MI, Ann Arbor, USA

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BMC Bioinformatics 2013, 14:157  doi:10.1186/1471-2105-14-157

Published: 9 May 2013

Additional files

Additional file 1:

Table S1. Conditional probability table. The Conditional probability of total copy number of an offspring (O) given the copy number of mother (M) and father (F). The parameter e denotes the probability of de novo events and a denotes the probability of the rare chromosome-specific copy number configuration.

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