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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| 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 |