The critical role of transcript analysis for refining the classification of variants associated with constitutional disorders

Learn how Kai Lee Yap uses the splicing predictors in Alamut™️ Visual Plus to reclassify variants.

Presented by: Kai Lee Yap, PhD, FACMG,
Director of Molecular Diagnostics, Ann & Robert H. Lurie Children's Hospital of Chicago, Assistant Professor of Pathology, Northwestern University Feinberg School of Medicine.

Presented at: American Society of Human Genetics (ASHG) Annual Meeting 2023, Washington, DC.

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