Genomic sequence characteristics and the empiric accuracy of short-read sequencing
Maximillian G. Marin, Roger Vargas, Michael Harris, Brendan M. Jeffrey, L. Elaine Epperson, David Durbin, Michael Strong, Max Salfinger, Zamin Iqbal, İrada Akhundova, Sergo A. Vashakidze, Valeriu Crudu, Alex Rosenthal, Maha Reda Farhat
The paper evaluates short-read variant calling accuracy in Mycobacterium tuberculosis using Illumina and PacBio data, finding high precision with optimized mapping thresholds and identifying 68% of excluded repetitive regions as accurately called.
bioRxiv · Apr 8, 2021 · PreprintBioinformatics