The long sort of short: new insights into haplotype phasing with Illumina TruPath™ Genome

Evaluating proximity mapped read technology (TruPath™ Genome) for haplotype phasing in complex blood group loci

Accurate haplotype phasing is critical for interpreting complex genomic variation and remains challenging with conventional short‑read sequencing alone. In this webinar, Mitch Bekritsky, , PhD, from the Institute of Clinical Molecular Biology Kiel, University Medical Center Schleswig‑Holstein, Germany will explain how Illumina TruPath™ Genome uses proximity mapped read technology to deliver long‑range phasing information from short‑read data, benchmarked against long‑read approaches.

Tim A. Steiert, PhD, from the Institute of Clinical Molecular Biology Kiel, University Medical Center Schleswig‑Holstein, Germany will then present how Illumina TruPath™ Genome delivers long‑range phasing information from short‑read data in complex blood group loci and how this compares to long-read technologies.

What you’ll learn

• How proximity mapped read technology enables long‑range phasing from short reads

• Genome‑wide phasing performance compared with long reads

• Resolution of challenging blood group loci including RHD–RHCE and MNS

• Concordance with serological typing using blood group genotyping software

• Practical advantages of TruPath Genome, including automation and low DNA input requirements 

   

Michael Wittig
Christian-Albrechts-University of Kiel & University Medical Center Schleswig-Holstein, Institute of Clinical Molecular Biology, Kiel, Germany
Postdoctoral Researcher, Platform Leader Genotyping

Tim A. Steiert
Christian-Albrechts-University of Kiel & University Medical Center Schleswig-Holstein, Institute of Clinical Molecular Biology, Kiel, Germany

Tim A. Steiert, PhD, is a postdoctoral researcher at the Institute of Clinical Molecular Biology Kiel, Germany, where his work focuses on the application, optimization, and development of laboratory and bioinformatic approaches in the field of next-generation sequencing (NGS) to translate NGS into precision medicine.

A key area of his research is immunohematology and investigating the genomics of blood group systems to enhance the accuracy, scalability, and clinical utility of blood group genotyping.