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Paired DNA and RNA sequencing from 450,000 consecutive individuals: Impact on yield in hereditary breast, ovarian, pancreatic, and prostate (HBOP) cancer genes

Oncology
Women’s Health / Primary Care

Date:
Tuesday, Apr 22, 2025 4:00pm – 5:00pm

Conference:
Basser Scientific Symposium 2025

Authors:
Jessica Grzybowski, Heather Zimmermann, Marcy E. Richardson, Rachid Karam, PhD, Magan Trottier, Carolyn Horton, Lily Hoang, Jesus Ramirez Castano, Sami Belhadj

Poster Abstract
Characterization of RPS20-related colorectal cancer predisposition: A case series from a multigene panel testing cohort

Oncology

Date:
Friday, Mar 21, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Jennifer Herrera-Mullar, Cassidy Carraway, Felicia Hernandez, Marcy E. Richardson, Ashley P.L. Marsh, Cynthia Martinez, Emily Kudalkar

Poster Abstract
Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study

Clinical Genomics

Date:
Friday, Mar 21, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Robert Pilarski, Grace E. VanNoy, Brooklynn Gasser, John Ranola, Meghan C. Towne

Abstract Poster
RNA and reclassification: Assessing RNA data in rare disease

Clinical Genomics

Date:
Friday, Mar 21, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Jessica Gage, Jessica Grzybowski, Catherine Schultz, Melissa Holman, Carrie Horton, Marcy E. Richardson, Heather Zimmermann, Grace VanNoy, Shoji Ichikawa, Emily Kudalkar, Jesus Ramirez Castano, Brooklynn Gasser, Kevin Lam, Melissa Samons

Poster Abstract
Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort

Oncology

Date:
Friday, Mar 21, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Caitlin Reid, Timothy Komala, Marcy E. Richardson, Emily Maxwell, Ayanna Boyce, Ashley P.L. Marsh, Kevin Beezhold, Katie Lang, Colby L. Chase

Poster Abstract
Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel

General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Rachel Shapira, Beatrice Mónica Bowen, Yevgeniya Gartshteyn, Yuke He, Megan Johnson, Ingrid M. Keseler, Nasim Monfared, Andrra Nimoni, Clarissa J. Klein, Ivona Aksentijevich, Steven Mack, Louis Bridges, Jr, Teri E. Klein, Ruth Fernandez Ruiz, George C. Tsokos

Collaborators:

Beth Israel Deaconess Medical Center
Columbia University Irving Medical Center
National Human Genome Research Institute
Stanford
University of California, San Francisco
Wake Forest School of Medicine

Abstract Poster
RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case

Oncology

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Marcy E. Richardson, Rachid Karam, PhD, Victoria Ellis, Abbey Jamison, Colin Young, PhD, Sami Belhadj

Abstract Poster
Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients

Oncology

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Marcy E. Richardson, Sara M. Berger, Jamie Weyandt, PhD, Jose Andres Morales, Catherine Mayo

Collaborators:

Columbia University

Poster Abstract
BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

Clinician
General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Matthew P. Johnson, Ashley P.L. Marsh, Laura I. Hudish, Marcy E. Richardson, Steven M. Harrison

Abstract Poster
The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

Clinician
General

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am

Conference:
ACMG 2025

Authors:
Greg Nogle, Timothy Komala, Amal Yussuf, Robert Pilarski, Marissa Russell, Lily Hoang

Abstract Poster

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Paired DNA and RNA sequencing from 450,000 consecutive individuals: Impact on yield in hereditary breast, ovarian, pancreatic, and prostate (HBOP) cancer genes

Characterization of RPS20-related colorectal cancer predisposition: A case series from a multigene panel testing cohort

Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study

RNA and reclassification: Assessing RNA data in rare disease

Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort

Initial findings of the ClinGen Monogenic Systemic and Incomplete Lupus Gene Curation Expert Panel

RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case

Beyond NGS: Detailed analysis of Sanger, MLPA and RNA confirms tuberous sclerosis complex in clinically diagnosed patients

BS1/BA1 thresholds derived from disease-specific genetic architectures result in decreased rates of VUS in clinically relevant genes

The impact of discrepant payor policies from one lab benefits manager on patient access to genetic testing

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