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

Kai Lee Yap educational webinar Splicing prediction with Alamut™️ Visual Plus – From ASHG 2023

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

Alamut™️ Visual Plus user presentation at the ASHG 2023 Annual Meeting.

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.

Event Date
December 6, 2023 –

Event Type

Webinar

Event Location

North America

Areas of Interest

Alamut

Disclaimer notice:

The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.

The opinions expresseda during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.

SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at [email protected] to obtain the appropriate product information for your country of residence.

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