eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
Abstract
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing for directly pinpointing rare causal mutations in genic regions without the need for linkage analysis. However, the low diagnostic rates of 20–30% reported for multiple WES disease studies point to the need...
Paper Details
Title
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics
Published Date
May 21, 2019
Journal
Volume
40
Issue
7
Pages
865 - 878
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Notes
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