CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi
Topics & Concepts
Copy-number variationIndelGeneticsExome sequencingBiologyContext (archaeology)ExonMedical geneticsAlleleSingle-nucleotide polymorphismGeneGenomeGenotypeMutationPaleontologyGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesFetal and Pediatric Neurological Disorders