High-Throughput Nucleotide Resolution Predictions of Assay Limitations Increase the Reliability and Concordance of Clinical Tests.

Jonathan BielerChristian PozzoriniJessica Garcia Alex Charles TuckMorgane MacheretAdrian WilligSébastien CouraudXiaobin XingPhilippe Menu Lars M Steinmetz Léa PayenZhenyu Xu

Published in: JCO clinical cancer informatics (2022)

Our approach, which we name LAVA (LOD-aware variant analysis), reports the LOD for every position and sample interrogated by an NGS assay. This enables reliable results to be identified and improves the transparency and safety of genetic tests.

Keyphrases

high throughput
single cell
emergency department
copy number