Publications by authors named "E Rozemuller"

Article Synopsis
  • Researchers analyzed HLA genotypes in 99 type 1 diabetes (T1D) patients and 200 control subjects from Mali using next-generation sequencing, discovering strong associations between several HLA loci and T1D, primarily in class II genes.
  • The study found that certain alleles like HLA-DRB1*03:01 and HLA-B*27:05 are linked to T1D risk, although previous findings suggested different effects, indicating potential complexities related to genetic linkages in this population.
  • Amino acid-level analyses indicated that the HLA-C locus shows unique polymorphisms compared to HLA-A and HLA-B, suggesting it may have a distinct influence on T1D risk, highlighting
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Studies have characterized the immune escape landscape across primary tumors. However, whether late-stage metastatic tumors present differences in genetic immune escape (GIE) prevalence and dynamics remains unclear. We performed a pan-cancer characterization of GIE prevalence across six immune escape pathways in 6,319 uniformly processed tumor samples.

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Article Synopsis
  • * Researchers discovered a rare interlocus recombination between the HLA-A and HLA-H genes using advanced sequencing techniques, including nanopore sequencing.
  • * A new allele, HLA-A*11:335, was identified, showcasing the effectiveness of nanopore sequencing in uncovering complex genetic variations and contributing to our understanding of HLA allele generation.
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Unlike classical HLA class I genes, MR1 is assumed to have limited polymorphic positions. We developed a MR1 specific PCR assay and sequenced 56 DNA samples from cells with a diverse set of HLA genotypes. In this relatively small panel we found six allele groups encoding for different MR1 proteins.

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Next generation sequencing (NGS) assays are state of the art for HLA genotyping. To sequence on an Illumina sequencer, the DNA of interest must be enriched, fragmented, and bookended with known oligonucleotide sequences, a process known as library construction. Many HLA genotyping assays enrich the target loci by long-range PCR (LR-PCR), prior to fragmentation.

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