Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

2015 Genetics in Medicine 29,582 citations

Keywords

Medical geneticsWorkgroupExome sequencingContext (archaeology)ExomeGenomicsGenetic testingGeneticsWhole genome sequencingGenetic associationComputational biologyBiologyBioinformaticsGenomeComputer scienceSingle-nucleotide polymorphismGeneGenotypeMutation

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Year
2015
Type
article
Volume
17
Issue
5
Pages
405-424
Citations
29582
Access
Closed

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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine , 17 (5) , 405-424. https://doi.org/10.1038/gim.2015.30

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DOI
10.1038/gim.2015.30