A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genetics in medicine : official journal of the American College of Medical Genetics

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, …, Antonio Vitobello, Lisenka E L M Vissers, Laurence Faivre

• DOI: 10.1016/j.gim.2023.100018
• PMID: 36681873