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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in huma...
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| Udgivet i: | Genome Med |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5733812/ https://ncbi.nlm.nih.gov/pubmed/29254502 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0508-z |
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