Pitfalls of clinical exome and gene panel testing: alternative transcripts - Bodian, Dale L.; Kothiyal, Prachi; Hauser, Natalie S. (Genetics in medicine, 2019)
Keywords: Biomedical and Life Sciences; Biomedicine; Brief Communication; Case-Control Studies; Databases, Genetic; Epilepsy; Epilepsy - diagnosis; Epilepsy - genetics; Epilepsy, Benign Neonatal - diagnosis; Epilepsy, Benign Neonatal - genetics; Exome - genetics; Exons - genetics; Female; Genes; Genetic Testing - methods; Goats; High-Throughput Nucleotide Sequencing - methods; Human Genetics; Humans; Infant, Newborn; Laboratory Medicine; Male; Mutation; Sequence Analysis, DNA - methods; Whole Exome Sequencing - methods; Whole genome sequencing; epilepsy; alternative transcripts; exome sequencing; gene panel testing; diagnostic yield