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Genetic Analysis Workshop 18 single-nucleotide variant prioritization based on protein impact, sequence conservation,

Thomas Nalpathamkalam1, Andriy Derkach2, Andrew D Paterson3

  • 1The Centre for Applied Genomics, The Hospital for Sick Children, 101 College Street, M5G 1L7 Toronto, ON, Canada ; Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, M5G 1L7 Toronto, ON, Canada.

BMC Proceedings
|December 19, 2014
PubMed
Summary

Prioritizing genetic variants by functional impact and gene mapping enhances rare variant association tests. Protein-damaging variants showed a stronger association signal in Genetic Analysis Workshop 18 (GAW18) studies.

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