American Society of Human Genetics

Join GeneDx and Fabric Genomics for a Happy Hour!

Learn how we are coming together to deliver clinical actionable genomic insights worldwide – enabling decentralized testing powered by centralized intelligence.

Thursday, October 16, 5:30-8:30 pm

Legal Sea Foods: 270 Northern Ave, Boston MA

GeneDx poster presentations

Poster presentations will be held from October 15^th-17^th in the exhibit hall.

The clinical impact of a framework for validating gene-disease associations in a high-throughput clinical laboratory

Poster #: TBD

Maria Guillen Sacoto, MD, FACMG, Scientific Director, Research and Innovation, GeneDx

Beyond panels: the superior diagnostic utility of exome/genome sequencing in hearing loss

Poster #: TBD

Bobbi McGivern, MS, LCGC, Clinical Program Manager,  Clinical & Translational Research, GeneDx

Copy Number Variant Detection by Exome or Genome Sequencing Is Highly Concordant with Chromosomal Microarray

Poster #: TBD

Sarah Poll, PhD, Director, Clinical Data Science & Research, GeneDx

Concordance of results from Cas9-Targeted Sequencing and LR-WGS with Results from Validated Clinical Methods for the diagnosis of Repeat Expansion Disorders

Poster #: TBD

Jessica Noya, Senior Laboratory Scientist, GeneDx

Gene-based burden testing of rare variants identifies established and novel genetic contributors to Intellectual Disability

Poster #: TBD

Thorhildur Juliusdottir, Director, Statistical Genetics, GeneDx

A machine learning approach for identifying de novo variants with high accuracy in a high-throughput genomic testing laboratory

Poster #: TBD

Robert Kueffner, Machine Learning Engineer, GeneDx

Using GORdb to leverage large scale genotype and phenotype data to confirm and explore new gene disease associations

Poster #: TBD

Hakon Gudbjartsson, PhD, GeneDx

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Presentations and Posters Utilizing GeneDx Testing

GUARDIAN Expanded NBS Study: Short- and Medium-Term Follow-Up with the First 15,000 Participants Enrolled

Presented by: Brenna Boyd, Columbia University Irving Medical Center

Shared and distinct genetic architectures of autism and neuropsychiatric disorders

Presented by: Jack Fu, Center for Genomic Medicine, Massachusetts General Hospital

UW: Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns

Poster #: TBD

Author: Colby Marvin, Univeristy of Washington

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

Poster #: TBD

Xiao Chen, PacBio

SeqFirst: The value of a “sequencing first” approach: qualitative interviews with SeqFirst families

Poster #: TBD

Olivia Sommerland, University of Washington

PCGC: Large-scale WES integrating research and clinical genetic testing cohorts identifies novel risk genes for congenital heart disease

Poster #: TBD

Wenxing Li, Columbia University Irving Medical Center

Machine Learning Approach Identifies Genes with Rare Variants Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections

Poster #: TBD

Dong-chuan Guo, University of Texas Health Science Center at Houston