Population-scalable genotyping from low-coverage sequencing data using pangenome graphs
Davide Bolognini, Andrea Guarracino, Chiara Paleni, Thomas Sumner Dudley, Licia Iacoviello, Alessandro Raveane, Peter H. Sudmant, Erik P. Garrison, Nicole Soranzo
COSIGT improves genotyping accuracy at low sequencing depths by matching coverage patterns to pangenome haplotypes using cosine similarity, enabling population-scale analysis of complex variation.
bioRxiv · Feb 6, 2026 · PreprintBioinformatics