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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
BACKGROUND: The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely used in diagnostic laboratories for variant interpretation. The ACMG/AMP guidelines recommend complete concordance of predictions a...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genome Biol |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5704597/ https://ncbi.nlm.nih.gov/pubmed/29179779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1353-5 |
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