Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13.
Lingling XingYing ShenXiang WeiYuan LuoYan YangHaipeng LiuHongqian LiuPublished in: Molecular genetics & genomic medicine (2022)
LRS is effective for analyzing the complex structural variations of the human genome and may be used to clarify the specific CCRs for effective genetic counseling and appropriate intervention.