为探究儿童急性淋巴细胞白血病（ALL）的发病机制，研究人员对 67 例马来西亚正常核型的儿童 ALL 患者开展基于阵列比较基因组杂交（array-CGH）研究。结果发现了致病性拷贝数变异（CNVs）和意义不明变异（VUS），这有助于白血病分类和个性化治疗123。 儿童急性 ...

Although numerous platforms have been developed to support array CGH studies, they all revolve around a common principle of detecting copy number alterations between two samples (Figure 1). These ...

The frequency of disease-related large rearrangements (referred to as copy-number mutations, CNMs) varies among genes, and search for these mutations has an important place in diagnostic strategies.

infoQuant Ltd brings microarray technology closer to clinical use with its latest release of copy number analysis and interpretation software "oneClickCGH" and "CGH Fusion" for microarray-based ...

Comparative genomic hybridization (CGH) was developed to identify pathogenic DNA copy-number changes (e.g., duplications, deletions) on a genome-wide scale, and to map these changes to genomic ...

Early efforts to examine genomic changes in the clinical setting relied on cytogenetic techniques such as chromosome karyotyping, a widely used approach to examine chromosomes and identify changes ...