Human leukocyte antigen (HLA) allele ambiguities are the result of limitations of current HLA typing methodologies. Ambiguities maybe due to polymorphisms in unsequenced regions of HLA genes or cis/trans variants that cannot be distinguished by Sanger sequencing. Next generation sequencing (NGS) can resolve these two sources of ambiguity because the entire gene can be sequenced. Commercially available HLA NGS genotyping kits enable laboratories to deliver high-quality and unambiguous HLA typing results at an affordable cost. Third generation sequencing technologies are poised to further improve sequencing quality, shorten turn-around and library preparation times, as well as provide full-gene phasing.
Keywords: DNA sequencing; Human leukocyte antigen (HLA); Next generation sequencing (NGS); Polymerase chain reaction (PCR).
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