Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
Stephen E. Lincoln, Tina M. Hambuch, Justin M. Zook…·Robert Luke Nussbaum
The paper evaluates the detection of technically challenging variants in NGS workflows using synthetic specimens and clinical data from 450,000 patients, finding significant variability in detection rates.
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