Novel Alleles
The proper characterization and naming of alleles is a crucial step in matching stem cell donors with patients worldwide. With a staggering number of over 30,000 known alleles and ongoing discoveries of novel variants, our team employs two sequencing technologies to ensure accurate data.
Characterization and naming of alleles is a prerequisite for the matching of a potential stem cell donor to a patient on a global level. However, HLA genes are the most variable genes in the human body and over 30 000 alleles are known and described in the IPD-IMGT/HLA database (https://www.ebi.ac.uk/ipd/imgt/hla/). Despite the high number of described alleles we are identifying novel variants on a daily basis.
Novel alleles are subjected to two independent full-length PCR reactions and sequenced using two different technologies: Illumina shotgun sequencing and either Nanopore or PacBio SMRT sequencing. By combining the data of both technologies, we are able to generate highly correct and fully phased sequencing data (Albrecht et al., 2017; Paech et al., 2021). The final sequences are submitted to IPD-IMGT/HLA using our in-house developed software TypeLoader2 (Schöne et al., 2019). As of today, our team has characterized and submitted more than 8500 novel sequences.