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Estimating clinical risk in gene regions from population sequencing cohort data
While pathogenic variants significantly increase disease risk in many genes, it is still challenging to estimate the clinical impact of rare missense variants more generally. Even in genes such as BRCA2 or PALB2, large cohort studies find no significant association between breast cancer and rare ger...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882564/ https://www.ncbi.nlm.nih.gov/pubmed/36711752 http://dx.doi.org/10.1101/2023.01.06.23284281 |