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Presentations

Genomic Answers for Kids

The Genomic Answers for Kids team regularly makes presentations about the program and its results. This helps disseminate our findings for other researchers and health care providers to apply to their work.

Upcoming presentations


Clinical Applications of Long-Read Sequencing: Ending the diagnostic odyssey and increasing diagnostic yield

Emily Farrow, PhD
American College of Medical Genetics and Genomics Annual Meeting
March 22, 2022

Recent presentations


Genomic Answers for Kids – Solutions for Undiagnosed Disease
Tomi Pastinen, MD, PhD
NYU Grossman School of Medicine, Genetic Medicine Colloquium
Oct. 26, 2021

Genomic Answers for Kids View of Pediatrics and Precision Medicine
Tomi Pastinen, MD, PhD
MedCity Invest: Precision Medicine
June 9, 2021

Retrospective Analysis of NGS data in Pediatric Genetic Cohort: Detection of Rare Variants that may impact influenza and COVID-19 infection 
Isabelle Thiffault, PhD, FACMGG
American College of Medical Genetics and Genomics
April 15, 2021

Clinical Application of Long-Read Sequencing in Unsolved Rare Disease
Emily Farrow, PhD, CGC
American College of Medical Genetics and Genomics
April 15, 2021

Posters


Posters presented at the American Society of Human Genetics 2021 Annual Meeting:

  • Thiffault I, Farrow E, Saunders C, Cohen A, Alaimo J, et al. The knowns and unknowns: Challenges of genes of uncertain significance in the era of high-throughput sequencing and lessons from matching tools. *Reviewers Choice Award.

  • Berrios C, Donis de Miranda E, Pina K, Hurley EA, Lantos J. Divergent perceptions of meaning and utility of genetic testing results between families, clinicians, and laboratory directors.