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Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical

Yuxin Zhang1,2,3, Mingjie Yang4, Lulu Yan1,2,3

  • 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.

BMC Medical Genomics
|August 27, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
F8 geneComplex structural variantHemophilia ALong-read sequencingOptical genome map

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
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