Effective variant filtering and expected candidate variant yield in studies of rare human disease

In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to establish...

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Detalles Bibliográficos
Autores principales: Pedersen, Brent S., Brown, Joe M., Dashnow, Harriet, Wallace, Amelia D., Velinder, Matt, Tristani-Firouzi, Martin, Schiffman, Joshua D., Tvrdik, Tatiana, Mao, Rong, Best, D. Hunter, Bayrak-Toydemir, Pinar, Quinlan, Aaron R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282602/
https://www.ncbi.nlm.nih.gov/pubmed/34267211
http://dx.doi.org/10.1038/s41525-021-00227-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282602/
https://www.ncbi.nlm.nih.gov/pubmed/34267211
http://dx.doi.org/10.1038/s41525-021-00227-3

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