Article
Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics
6 Apr 2022
Abstract excerpt
BACKGROUND: Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolution. Bionano optical genome mapping (OGM) developed in recent years can be used to analyze chromosomal abnormalities...