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Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis Genet. Mol. Biol.
Borges,Murilo G.; Rocha,Cristiane S.; Carvalho,Benilton S.; Lopes-Cendes,Iscia.
Abstract 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 phase 3, focusing on the variants present in the ClinVar database that were predicted to affect protein-coding regions. We demonstrate that the distribution of the sequencing depth varies across different sequencing centers (pair-wise comparison, p < 0.001). Most importantly, we found that the distribution pattern of sequencing depth is specific to each facility, making it possible to correctly assign 96.9% of the samples to their sequencing center....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Whole exome sequencing; Depth; ClinVar; Computational biology; Clinical genomics.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400804
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