Long-read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13

CONCLUSIONS: 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.PMID:35758276 | DOI:10.1002/mgg3.2011

Source: Molecular Medicine - June 27, 2022 Category: Molecular Biology Authors: Lingling Xing Ying Shen Xiang Wei Yuan Luo Yan Yang Haipeng Liu Hongqian Liu Source Type: research