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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507483/ https://www.ncbi.nlm.nih.gov/pubmed/32160417 http://dx.doi.org/10.1002/mgg3.1206 |