Full-length haplotype reconstruction of CD36 by long-read sequencing: uncovers a novel structural variant

This study establishes a robust PolySeq nanopore sequencing-based framework for full-length CD36 haplotype reconstruction and identifies a large structural deletion as a major, previously underrecognized candidate genetic mechanism underlying type I CD36 deficiency. Our findings suggest that many unresolved cases of type I deficiency may be attributable to cryptic structural variants missed by conventional methods, highlighting the necessity of long-read sequencing for accurate molecular diagnosis.