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MN3-23: So You Think You’ve Found a New Allele


Oct 21, 2019 2:00pm ‐ Oct 21, 2019 3:30pm

Description

Ever wondered what goes into the publication of those New Alleles or Antigen you read about in the pages of Transfusion? How do they do it? How are new alleles discovered, and what efforts go into confirming that it is ‘new’. This session will ‘look under the hood’ at different technologies and provide an armchair view of how it’s done. From high-level chromosomal rearrangements, interpretation of mass-scale data, and population genomics, down to phenotype-genotype discordances, this session will review just how new alleles and antigens are discovered.

Learning Objectives:

  • Review new and emerging technologies used to examine genomic information to solve complex serologic cases related to blood group antigen expression. These include conventional PCR, non-PCR arrays, and next generation sequencing.
  • Recognize the process of evaluating sample specific genomic information against publicly-available population genomics (Big Data) to determine novelty, frequency and predicted protein expression.
  • Describe the process by which a new allele of a blood group antigen gene can be submitted for publication and for inclusion into allele tables used by the transfusion medicine community.

Speaker(s):

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