Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing
Hu Tan, Yinong Xie, Fei Chen, Min Chen, Yu Li, Dunjin Chen, Jingsi Chen
Topics & Concepts
Exome sequencingKaryotypeExomeBiologyFetusGeneticsMicroarrayCopy-number variationEtiologyMutationChromosomeGenePathologyMedicinePregnancyGenomeGene expressionFetal and Pediatric Neurological DisordersGenomic variations and chromosomal abnormalitiesPrenatal Screening and Diagnostics