作者: Herman E. Wyandt , Golder N. Wilson , Vijay S. Tonk
DOI: 10.1007/978-981-10-3035-2_9
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摘要: Two revolutionary advances in molecular biology have enabled scanning of the entire human genome for genetic variation: 1. Array-comparative genomic hybridization-microarray analysis (aCGH, CMA, microarray analysis, referred to henceforth as aCGH) that identifies altered DNA dosage. 2. Whole or exome sequencing (WGS WES) nucleotide sequence changes.