Učitavanje...
Problems in variation interpretation guidelines and in their implementation in computational tools
BACKGROUND: ACMG/AMP and AMP/ASCO/CAP have released guidelines for variation interpretation, and ESHG for diagnostic sequencing. These guidelines contain recommendations including the use of computational prediction methods. The guidelines per se and the way they are implemented cause some problems....
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| Izdano u: | Mol Genet Genomic Med |
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| Glavni autor: | |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7507483/ https://ncbi.nlm.nih.gov/pubmed/32160417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1206 |
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