Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.

Peng DaiXiaofan ZhuYanzheng PeiPeng ChenJingjing LiZhi GaoYu LiangXiangdong Kong

Published in: Molecular genetics & genomic medicine (2022)

This study shows that OGM can be a high adjunctive diagnostic method for detecting balanced chromosome translocations, but the accuracy and precision of OGM detecting mutations need to be gradually improved in telomere and centromere regions.

Keyphrases

high resolution
copy number
genome wide
high speed
gene expression
dna methylation