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"The Challenge of Sequencing HBA1/2 Genes for Alpha Thalassemia Research"
"The Challenge of Sequencing HBA1/2 Genes for Alpha Thalassemia Research"
Affecting approximately 5 percent of the world’s population, alpha thalassemia is the most common monogenic inherited disorder
Located in tandem, the HBA1 and HBA2 genes have identical coding sequences and this homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.
In this presentation, Dr. Colin Davidson of Thermo Fisher Scientific presents case examples to illustrate how the Ion Torrent CarrierSeq ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.
Offered Free by: Thermo Fisher Scientific
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