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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
BACKGROUND: The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. With certain exceptions, such as founder mutations, the rarity of a variant is a prerequisite for pathogenicity. However, defining the threshold at which a va...
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| Pubblicato in: | Genome Med |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5295186/ https://ncbi.nlm.nih.gov/pubmed/28166811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0403-7 |
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