Exploring the importance of case-level clinical information for variant interpretation
- PMID: 27561084
- PMCID: PMC5225022
- DOI: 10.1038/gim.2016.106
Exploring the importance of case-level clinical information for variant interpretation
Comment on
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Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.Genet Med. 2017 Jan;19(1):77-82. doi: 10.1038/gim.2016.67. Epub 2016 Jun 16. Genet Med. 2017. PMID: 27308838
References
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- Narravula, et al.
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- Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. 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. Genet Med. 2015;17:405–424. - PMC - PubMed
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- ExAC Consortium. Analysis of protein-coding genetic variation in 60,706 humans. http://biorxiv.org/content/early/2015/10/30/030338. - PMC - PubMed
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