Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
- 1 July 2012
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 91 (1) , 97-108
Abstract
No abstract availableKeywords
This publication has 43 references indexed in Scilit:
- Managing incidental findings and research results in genomic research involving biobanks and archived data setsGenetics in Medicine, 2012
- Motivators for participation in a whole-genome sequencing study: implications for translational genomics researchEuropean Journal of Human Genetics, 2011
- A map of human genome variation from population-scale sequencingNature, 2010
- Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers With Cancer Risk and MortalityJAMA, 2010
- Clinical assessment incorporating a personal genomeThe Lancet, 2010
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genesHuman Mutation, 2008
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsHuman Mutation, 2008
- Recommendations for locus-specific databases and their curationHuman Mutation, 2007
- Human Gene Mutation Database (HGMD®): 2003 updateHuman Mutation, 2003