Article

Analytical and clinical validation of a genome sequencing-based comprehensive rare disease genomic profiling test

2024-10-22

Abstract excerpt

This study evaluates the performance of the RareVision Whole Genome Sequencing (WGS) assay for comprehensive genomic profiling in rare genetic diseases. The analytical validation assessed the assay’s sensitivity and positive predictive values (PPV) for single nucleotide variants (SNVs), insertions/deletions (indels), and structural variants (SVs), revealing a sensitivity of 99.4% for SNVs and 98.7% for indels, wit...

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Literature Corpus work: c2be66c6-6e71-5768-808c-b8fe0d13fa8f
DOI: 10.1101/2024.10.19.24315813

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