Anne Hebert

ORCID: 0000-0002-8945-015X · 1 paper in corpus · active 2022
2022
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
·doi:10.1101/2022.03.30.22272929

Background D e novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods This study explored the potential …