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Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks
Additional variant interpretation tools are required to effectively harness genomic sequencing for clinical applications. The American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) published guidelines for clinical sequence variant interpretation, inco...
Gorde:
| Argitaratua izan da: | Hum Mutat |
|---|---|
| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6548460/ https://ncbi.nlm.nih.gov/pubmed/30095857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23609 |
| Etiketak: |
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