NEXT-GENERATION SEQUENCING FOR PHASED HLA CLASS I ANTIGEN RECOGNITION DOMAIN EXONS

摘要

Provided are methods for the rapid and accurate determination of the phase of nucleotide polymorphisms in the functionally important region of an HLA protein, i.e., which polymorphic nucleotides are encoded by the same allele. This allows the resolution of an HLA assignment to a specific genotype, and thereby more accurate matching for transplantation and more accurate testing of HLA in general for other applications. In accordance with the instant invention, the phase of polymorphic nucleotides in the functionally relevant region of the HLA molecule, the antigen recognition domain exons, is determined in a single next-generation sequence run.