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How many diseases can one gene cause? Why mechanism matters for gene curation, variant classification, and patient counseling

General

Session:
#232

Date:
Tuesday, Nov 12, 2024 12:30pm – 1:45pm

Conference:
CNS 2024

Authors:
Bess Wayburn, Mari Rossi, Wendy Alcaraz, Jennifer Herrera-Mullar, Kelly Radtke, Jennifer M. Huang, Meghan C. Towne, Carolyn Horton, Devon L. Thrush

Abstract Poster
From last resort to first choice: The ascension of exome sequencing in isolated NDD diagnostics

Clinical Genomics

Session:
#231

Date:
Tuesday, Nov 12, 2024 12:30pm – 1:45pm

Conference:
CNS 2024

Authors:
Catherine Schultz, Cassidy Carraway, Margo Gallegos, Brooklynn Gasser, Hannah Rea, Dean Hoffer, Victoria Suslovitch, Meghan C. Towne

Abstract Poster
Impact of gene-disease validity on variant of unknown significance rates in hereditary cancer panels

Oncology

Session:
#1073

Date:
Friday, Nov 8, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Jessica Grzybowski, Devon Lamb Thrush, Carrie Horton, Elyse Ryan, Daniel Kostecki

Abstract Poster
Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

Oncology

Session:
#6077

Date:
Thursday, Nov 7, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Fergus Couch, Tina Pesaran, MA, MS, CGC, Rachid Karam, PhD, Marcy E. Richardson, Huaizhi Huang, Siddhartha Yadav, Susan M. Domchek, Alvaro N.A. Monteiro, Nicholas Boddicker, Wenan Chen, Chungling Hu

Collaborators:

Mayo Clinic
Moffitt Cancer Center

Abstract
Specification of frequency criteria for secondary findings genes to improve classification concordance

General

Session:
#3069

Date:
Wednesday, Nov 6, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Jennifer J. Johnston, Kristy Lee, Deborah I. Ritter, Steven M. Harrison, Leslie G. Biesecker

Collaborators:

Baylor College of Medicine
NHGRI
Texas Children's Hospital
University of North Carolina at Chapel Hill

Abstract Poster
Integrating emerging data into genomic testing: Outcomes from an evidence-based reanalysis initiative

Clinical Genomics

Session:
#3058

Date:
Wednesday, Nov 6, 2024 2:30pm – 4:30pm

Conference:
ASHG 2024

Authors:
Kelly Radtke, Kelly Hagman, MS, CGC, LGC, Bess Wayburn, Meghan C. Towne, Carolyn Horton, Sheila Saliganan, Kendra Webb, Brooklynn Gasser, Jennifer Huang

Poster Abstract
Enhancing clinical relevance in hereditary cancer panels: An evidence-based approach for DICER1 & SMARCA4

Oncology

Date:
Thursday, Sep 19, 2024 4:30pm – 6:30pm

Conference:
NSGC 2024

Authors:
Devon Lamb Thrush, Noriko Yokoyama, Jessica Laprise, Jessica Grzybowski, Elyse Ryan, Jamie D. Weyandt, Colin Young, PhD, Laura Hudish

Poster Abstract
Additional findings amongst relatives pursuing oncology multigene panel cascade testing

Oncology

Date:
Thursday, Sep 19, 2024 4:30pm – 6:30pm

Conference:
NSGC 2024

Authors:
Kelly Fulk, Carrie Horton, Cassidy Carraway, Sarah Siddiqui

Poster Abstract
Getting to the source of the matter: Evidence-driven reanalysis in exome sequencing

Clinical Genomics

Date:
Wednesday, Sep 18, 2024 5:45pm – 7:00pm

Conference:
NSGC 2024

Authors:
Kelly Hagman, MS, CGC, LGC, Bess Wayburn, Kelly Radtke, Meghan C. Towne, Sheila Saliganan, Kendra Webb, Brooklynn Gasser, Jennifer Huang

Abstract Poster
Increased Compliance of Patients Referred to Genetic Counseling After Introduction of a WebBased Risk-stratification Tool

CARE Marketing Resources

Date:
Wednesday, Sep 18, 2024 5:45pm – 7:00pm

Conference:
NSGC 2024

Authors:
Heather Fecteau, Shannon Kieran, Tawanna St. Lewis, Kaleena Wagner

Collaborators:

Medical City Dallas Hospital

Poster Abstract

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How many diseases can one gene cause? Why mechanism matters for gene curation, variant classification, and patient counseling

From last resort to first choice: The ascension of exome sequencing in isolated NDD diagnostics

Impact of gene-disease validity on variant of unknown significance rates in hereditary cancer panels

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

Specification of frequency criteria for secondary findings genes to improve classification concordance

Integrating emerging data into genomic testing: Outcomes from an evidence-based reanalysis initiative

Enhancing clinical relevance in hereditary cancer panels: An evidence-based approach for DICER1 & SMARCA4

Additional findings amongst relatives pursuing oncology multigene panel cascade testing

Getting to the source of the matter: Evidence-driven reanalysis in exome sequencing

Increased Compliance of Patients Referred to Genetic Counseling After Introduction of a WebBased Risk-stratification Tool

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