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Reveal true HLA allelic diversity

PacBio highly accurate long-read sequencing of the Human Leukocyte Antigen (HLA) system provides complete and deep full gene HLA profiling without fragmentation. PacBio sequencing overcomes the high-sequence homology and hyper polymorphisms to identify true HLA allelic diversity.

Access the full spectrum of polymorphisms across the HLA system

Highly accurate long reads – HiFi reads – with single-molecule resolution make Single Molecule, Real-Time (SMRT) Sequencing technology ideal for generating unambiguous, phase-resolved imputation-free HLA typing, so that you can:

  • Span complete HLA class I genes and long amplicons of HLA class II allowing for four field HLA genotyping
  • Fully phase polymorphisms with allele specificity across SNP-poor regions of HLA genes
  • Achieve unambiguous allele-level segregation without imputation
  • Detect variants in regulatory regions within 5’ UTRs, introns, and 3’ UTRs
  • Fully characterize minor variants in polyclonal samples, such as cancer or transcripts
  • Obtain direct evidence for new HLA alleles through de novo, reference-free consensus generation

From DNA to Imputation-free HLA Typing


Library Preparation
Fast and easy library preparation performed in a single tube with the capacity to use off-the-shelf enrichment methods, develop custom assays and multiplex amplicons.

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Sequencing
Use the Sequel and Sequel II Systems for affordable HiFi sequencing.

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Data Analysis
Analysis solutions for every user in the lab with SMRT Link and visualization tools.

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Spotlight: Using SMRT Sequencing to achieve ultra high resolution for HLA matching on hemopoietic stem cell transplantation significantly improves 5-year overall survival

In a retrospective HLA typing study, SMRT Sequencing was used to establish 12/12 Ultra-High-Resolution (UHR) matching in a cohort of patients previously typed using other technologies. This study showed that better HLA matching was achieved when typing is done at UHR that includes exons outside of the antogen recognition domain, introns, and untranslated regions. The authors concluded that UHR matching can significantly improve outcomes for recipients of a volunteer unrelated donor hematopoietic cell transplantation for a hematologic malignancy and should be prospectively performed at donor selection. Explore this research further:

Mayor, N. P.,  et al. (2019). Recipients receiving better HLA-matched hematopoietic cell transplantation grafts, uncovered by a novel HLA typing method, have superior survival: A retrospective study. Biology of Blood and Marrow Transplantation, 25(3), 443–450.

 

To learn more about how SMRT Sequencing powers imputation-free HLA typing, contact us.

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