1. Novel Allele Discovery
In collaboration with multiple research partners, Haorui Genomics has identified over ten novel HLA alleles, with submissions to the IMGT/HLA Database. These breakthroughs provide robust technical support for the discovery of novel HLA alleles, propelling HLA clinical research into a new era.
Novel HLA alleles identified by Haorui Genomics
2. Case Study
The Transfusion Medicine Research Team at the Shenzhen Blood Center performed routine NGS HLA typing on a hematopoietic stem cell donor sample, initially reporting a putative novel allele (DRB1*11:NEW, 12:01).
The NGS Challenge:
Due to the extreme length of HLA*DRB1 Intron 1, the identified mutation was too distant from adjacent heterozygous SNPs for short reads to span. Consequently, the NGS software failed to phase the mutation accurately, resulting in a random (and incorrect) allele assignment.
The AltruType™ Solution:
To resolve this ambiguity, the sample was analyzed using AltruType™. The assay successfully spanned the entire region, accurately phasing the mutation to haplotype sequence. The true genotype was unambiguously confirmed as HLA-DRB1*11:01, 12:10, effectively eliminating the false "novel" allele call.
Reference：Liu J, Yang BN, Quan ZR, Zou HY. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2025;33(6):1733-1738..
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