BioinformaticsbioRxivPreprint
An end-to-end in silico framework for truth-based validation and regression testing of clinical genome sequencing pipelines, from simulated reads to reportable findings
Bohuslav Dvorsky, Mariana Komarkova, Katerina Kollinova…·Radim Krupicka
This paper introduces an end-to-end in silico framework to validate and test clinical genome sequencing pipelines from simulated reads to reportable findings using a fixed truth set.
DOI 10.64898/2026.11.01.763475