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Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis
For a better interpretation of variants, evidence-based databases, such as ClinVar, compile data on the presumed relationships between variants and phenotypes. In this study, we aimed to analyze the pattern of sequencing depth in variants from whole-exome sequencing data in the 1000 Genomes project...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198014/ https://www.ncbi.nlm.nih.gov/pubmed/32343762 http://dx.doi.org/10.1590/1678-4685-GMB-2019-0270 |