Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13073-017-0508-z.pdf
Reference11 articles.
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2. ClinVar. www.ncbi.nlm.nih.gov/clinvar . Accessed 17 November 2017.
3. ClinGen. www.ncbi.nlm.nih.gov/clinvar/docs/clingen . Accessed 17 November 2017.
4. Bean LJ, Hegde MR. Gene variant databases and sharing: creating a global genomic variant database for personalized medicine. Hum Mutat. 2016;37:559–63.
5. Bean LJ, Tinker SW, da Silva C, Hegde MR. Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat. 2013;34:1183–8.
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