Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.

doi:10.1007/s00439-020-02201-y

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Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.

Human genetics - 1 Feb 2021

Pranckeviciene Erinija, Racacho Lemuel, Ghani Mahdi, Nfonsam Landry, Potter Ryan, Sinclair-Bourque Elizabeth, Mettler Gabrielle, Smith Amanda, Bronicki Lucas, Huang Lijia, Jarinova Olga

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Whole exome sequencing (WES)-based assays undergo rigorous validation before being implemented in diagnostic laboratories. This validation process generates experimental evidence that allows laboratories to predict the performance of the intended assay. The NA12878 Genome in a Bottle (GIAB) HapMap reference sample is commonly used for validation in diagnostic laboratories. We investigated what data points should...

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Interplay between probe design and test performance: overlap between genomic regions of interest, capture regions and high quality reference calls influence performance of WES-based assays.

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