Unraveling the potential of short and long read sequencing for human genome profiling
Aurélie Leduc, Asmae Bachr, Florian Sandron, Marc Délepine, Damien Delafoy, Cédric Fund, Christian Daviaud, Stéphane Meslage, Violette Turon, Delphine Bacq-Daian, Francis Rousseau, Robert Olaso, Jean‐François Deleuze, Zuzana Gerber, Vincent Meyer
This study compares short and long read sequencing technologies for human genome profiling, finding they are equivalent for SNVs but long reads excel in structural variants and haplotype phasing.
bioRxiv · Apr 22, 2026 · PreprintGenomics