Variant interpretation using population databases: Lessons from gnomAD

Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease–gene relationships. The Genome Aggregation D...

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Detalles Bibliográficos
Autores principales: Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160216/
https://www.ncbi.nlm.nih.gov/pubmed/34859531
http://dx.doi.org/10.1002/humu.24309

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9160216/
https://www.ncbi.nlm.nih.gov/pubmed/34859531
http://dx.doi.org/10.1002/humu.24309

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