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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...

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Bibliografiske detaljer
Udgivet i:Genet Mol Biol
Main Authors: Borges, Murilo G., Rocha, Cristiane S., Carvalho, Benilton S., Lopes-Cendes, Iscia
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7198014/
https://ncbi.nlm.nih.gov/pubmed/32343762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2019-0270
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