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Open Access Commentary

Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion

Matthew A Deardorff12*, Jesus Sainz34 and Struan FA Grant125

Author Affiliations

1 Division of Human Genetics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA

2 Department of Pediatrics, The University of Pennsylvania School of Medicine, Philadelphia, PA, USA

3 Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), Faculty of Medicine, University of Cantabria, Santander, Spain

4 Spanish National Research Council (CSIC), Madrid, Spain

5 Center for Applied Genomics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA

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BMC Medicine 2011, 9:13  doi:10.1186/1741-7015-9-13

Published: 3 February 2011


The hunt for the genetic contributors to complex disease has used a number of strategies, resulting in the identification of variants associated with many of the common diseases affecting society. However most of the genetic variants detected to date are single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) and fall far short of explaining the full genetic component of any given disease. An as yet untapped genomic mechanism is somatic gene conversion and deletion, which could be complicit in disease risk but has been challenging to detect in genome-wide datasets. In a recent publication in BMC Medicine by Kenneth Ross, the author uses existing datasets to look at somatic gene conversion and deletion in human disease. Here, we describe how Ross's recent efforts to detect such occurrences could impact the field going forward.

See research article: webcite