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The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling
Next-generation sequencing has led to an explosion of genetic findings for many rare diseases. However, most of the variants identified are very rare and were also identified in small pedigrees, which creates challenges in terms of penetrance estimation and translation into genetic counselling in th...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10513297/ https://www.ncbi.nlm.nih.gov/pubmed/37733810 http://dx.doi.org/10.1371/journal.pone.0290336 |