Featured Platform Presentations
20 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
West Exhibit Hall B
Clinical Genetics and Therapeutics
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Accredited:
- Accredited
Platform presentations are abstract submissions chosen by the abstract review committee to orally present their research. It is a 13-minute presentation followed by a 2-minute Q&A.
O12 - Deep Phenotyping Revolutionizes Genetic Diagnosis through Nine Strategic Categories
O13 - Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study
O15 - SimPheny: Automated Patient Matching for Genetic Diagnosis in Rare Disease Cohorts
O21 - Lab-on-Chip Multiplexed qPCR Analysis Identifies MT-RNR1 Hearing Loss Risk Alleles Allowing for Point of Care Genotyping for Testing and Screening
O12 - Deep Phenotyping Revolutionizes Genetic Diagnosis through Nine Strategic Categories
O13 - Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study
O15 - SimPheny: Automated Patient Matching for Genetic Diagnosis in Rare Disease Cohorts
O21 - Lab-on-Chip Multiplexed qPCR Analysis Identifies MT-RNR1 Hearing Loss Risk Alleles Allowing for Point of Care Genotyping for Testing and Screening
Agenda
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Moderator8:00 AM – 9:00 AM -
Deep Phenotyping Revolutionizes Genetic Diagnosis through Nine Strategic Categories8:00 AM – 8:15 AM -
Oral infigratinib for children with achondroplasia: Month 18 results from the PROPEL 2 study8:15 AM – 8:30 AM -
SimPheny: Automated Patient Matching for Genetic Diagnosis in Rare Disease Cohorts8:30 AM – 8:45 AM -
Lab-on-Chip Multiplexed qPCR Analysis Identifies MT-RNR1 Hearing Loss Risk Alleles Allowing for Point of Care Genotyping for Testing and Screening8:45 AM – 9:00 AM -
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