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Updated Recommendation for the Benign Stand Alone ACMG/AMP Criterion
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation working group set out to refine the ACMG/AMP variant pathogenicity recommendations for standalone rule BA1 (a variant with minor allele frequency (MAF) >0.05 is benign), by clarifying how it should be used and specifying a set...
Shranjeno v:
| izdano v: | Hum Mutat |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6188666/ https://ncbi.nlm.nih.gov/pubmed/30311383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23642 |
| Oznake: |
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