FGDD, an explainable dataset collected from 509 research articles. It contains 1,147 data records encompassing 197 disease-causing genes, 437 facial phenotypes, and 211 disease entities, with 689 reco
Additional file 1. Table S1: The bioinformatic quality index of Trio ES of the fetus and mother and Table S2: The 6.3 Mb microduplication on chromosome 20 was detected by Trio ES data of the fetus and
BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a pati
