Philippe Sanio

This study evaluates Oxford Nanopore sequencing's performance in clinical genomics using reference samples, showing high accuracy for SNVs and SVs but challenges with INDELs and CNVs.

MosaicSim simulates mosaic variants in sequencing data to evaluate detection methods, showing that higher coverage improves detection rates without false positives.

The paper introduces genomic stratifications for human reference genomes GRCh37, GRCh38, and T2T-CHM13v2.0 to benchmark variant caller performance in difficult regions.