Resolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats using adaptive sampling long-read
Nike Kwai Cheung Lau1, Hoi Shan Leung1, Tammy Tsz Yan Tong1
1Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong.
Familial chylomicronaemia syndrome (FCS) is a rare genetic disorder. Long-read sequencing with adaptive sampling successfully identified a GPIHBP1 gene deletion, overcoming challenges posed by complex DNA regions that hinder standard PCR methods.
Area of Science:
- Genomics
- Molecular Biology
- Rare Diseases
Background:
- Familial chylomicronaemia syndrome (FCS) is a rare genetic disorder causing severe hypertriglyceridemia.
- Deletions in the GPIHBP1 gene are a known cause of FCS.
- Standard PCR methods often fail to characterize breakpoints in GPIHBP1 deletions due to complex genomic regions.
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