SYSTEM ANALYSIS OF THE SEQUENCING QUALITY OF HUMAN WHOLE EXOME SAMPLES ON BGI NGS PLATFORM
Vera Belova, Anna S. Pavlova, Robert Afasizhev, Viktoriya Moskalenko, Margarita Korzhanova, Andrey Krivoy, Valery V. Cheranev, Boris Nikashin, Irina Bulusheva, Denis V. Rebrikov, Dmitriy O. Korostin
The paper compares a new WES protocol, RSMU_exome, to an existing MGI Tech kit, showing it detects more variants with higher sensitivity and specificity while being cheaper and allowing more samples to be pooled.
Scientific Reports · Jan 12, 2022Peer-reviewedGenomics