Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion |
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Authors: | Matthew A Deardorff Jesus Sainz Struan FA Grant |
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Institution: | (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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Abstract: | 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. |
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