Sanger validation of WGS variants - when to?
Arina Kopernik, Г.Ю. Зобкова, Natalia Doroschuk, Anna Smirnova, Daria Molodtsova-Zolotukhina, Olesya V. Sagaydak, О. П. Рыжкова, Sergey Ivanovich Kutsev, Olga S. Groznova, L. P. Melikyan, Elizaveta Bondarchuk, Mary V. Woroncow, Eugene A Albert, Viktor P. Bogdanov, Pavel Volchkov
This study evaluates concordance between whole genome sequencing variants and Sanger validation to establish thresholds for high-quality variant filtering.
bioRxiv · Apr 19, 2024 · PreprintGenomics