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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Detalles Bibliográficos
Autores principales: Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E., Topper, Scott E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295186/
https://www.ncbi.nlm.nih.gov/pubmed/28166811
http://dx.doi.org/10.1186/s13073-017-0403-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295186/
https://www.ncbi.nlm.nih.gov/pubmed/28166811
http://dx.doi.org/10.1186/s13073-017-0403-7

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