aCGH data analysis software tools

Array comparative genomic hybridization (aCGH; Pinkel et al., 1998) and single nucleotide polymorphism (SNP) microarray (Mei et al., 2000) are array-based karyotyping techniques which can help determine the genome abnormalities causing genetic disorders and the acquired genome copy number changes in cancer cells (Attiyeh et al., 2009; Chen et al., 2011). Both array CGH and SNP genotyping are routinely utilized by clinicians for the evaluation of patients with developmental delay, multiple congenital anomalies (Stankiewicz and Beaudet, 2007) and neuropsychiatric disorders (Lupski, 2012).

Biological Steps

Data preprocessing

Data processing

Genome variant analysis


Variant effect analysis

Data visualization

Integrative analysis


Unclassified tools