A multi-laboratory assessment of clinical exome sequencing for detection of hereditary disease variants: 4441 ClinVar variants for clinical genomic test development and validation

Autor: Zhang, Kuo, Yu, Lijia, Lin, Guigao, Li, Jinming
Zdroj: In Clinica Chimica Acta 1 October 2022 535:99-107
Databáze: ScienceDirect