本研究针对结构变异检测的技术瓶颈，创新性地比较了纳米孔测序（Nanopore Sequencing）与杂交SNP微阵列（hybrid-SNP microarray）在人类基因组拷贝数变异（CNV）检测中的性能。研究人员通过对两种白血病细胞系（EOL-1和697）的低深度测序（11-13X）分析，发现纳米孔测序 ...

Single-nucleotide polymorphism microarray analysis identifies copy-number variants and blocks of homozygosity, suggestive of consanguinity or uniparental disomy. The purpose of this study was to ...

Chromosomal microarray analysis (CMA) is currently considered first-tier testing in pediatric care and prenatal diagnosis owing to its high diagnostic sensitivity for chromosomal imbalances. The aim ...