A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes

Sequencing cases without matched healthy controls hinders prioritization of germline disease-predisposition genes. To circumvent this problem, genotype summary counts from public data sets can serve as controls. However, systematic inflation and false positives can arise if confounding factors are n...

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Detalles Bibliográficos
Autores principales: Chen, Wenan, Wang, Shuoguo, Tithi, Saima Sultana, Ellison, David W., Schaid, Daniel J., Wu, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095601/
https://www.ncbi.nlm.nih.gov/pubmed/35545612
http://dx.doi.org/10.1038/s41467-022-30248-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9095601/
https://www.ncbi.nlm.nih.gov/pubmed/35545612
http://dx.doi.org/10.1038/s41467-022-30248-0

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