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 ...

Single-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) ...

The sequencing of the human genome afforded the development of chromosomal microarrays that can be used to detect gains and losses of the genome. Microarrays are constructed from large pieces of ...

The human genome project was undertaken to determine the human DNA sequence and analyze variation among individuals. To make use of this information, tools were developed that could collect and ...