Root Archives

Poster

Advancing clinical validity curation and disease naming in hereditary cancer: A comprehensive recuration of breast, ovarian, colon cancer and polyposis disease genes

Oncology

Session:

#9043

Date:

Wednesday, Oct 15, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Jennifer Herrera-Mullar, Katherine Nathanson, Fergus Couch, Sharon E. Plon, Jasmine Baker, Giovana Torrezan, Volkan Okur, Leda Torres Karen Gripp, Payal Shah, Marc Greenblatt

Collaborators:

ClinGen Hereditary Cancer Gene Curation Expert Panel

Abstract

Poster

Uniparental disomy mysteries: How chromosomal microarray and exome sequencing can provide UPD clues that influence the diagnostic odyssey

Clinical Genomics

Neurology

Session:

#8027

Date:

Wednesday, Oct 15, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Erica Smith, Lana Sheta, Andrew Giles, Abigail Kosmin, Ginger Tsai

Abstract Poster

Poster

REVElations: Uncovering hidden heterogeneity lurking in the generalized calibration of computational tools

Research

Session:

#5023

Date:

Thursday, Oct 16, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Marcy E. Richardson, Scott T. Pew, Julie L. Boyle, Madison B. Wiffler, Russel Bell, Emily Nadeau, Colin C. Young, Predrag Radivojac, Steven E. Brenner, Marc Greenblatt, Sean V. Tavtigian

Collaborators:

Northeastern University

University of California, Berkeley

University of Utah

University of Vermont Cancer Center

Abstract

Poster

Don’t judge a variant by its position: +2T>C and the splicing surprise

General

Session:

#5009

Date:

Wednesday, Oct 15, 2025 2:30pm – 4:30pm

Conference:

ASHG 2025

Authors:

Heather Zimmermann, Shoji Ichikawa

Abstract Poster

Presentation

Beyond familial adenomatous polyposis: using genotype-phenotype correlations to discern germline versus somatic status for APC whole gene deletions among 860,000 tests

Oncology

Speakers:

Katherine L. Belshe, Jordyn Koehn, Alisdair Philp, Bryson Katona, Stephen Hyter, Rashna Madan, Barry Skikne, Abdulraheem Yacoub, Andrew K. Godwin, Marcy E. Richardson, Cassidy Carraway, Jeffrey N. Weitzel, Ajay Bansal

Conference:

CGA-IGC 2025

Saturday, Oct 11, 2025 1:30pm – 3:00pm

Collaborators:

Perelman School of Medicine at the University of Pennsylvania

University of Kansas Cancer Center

Abstract

Presentation

Analysis of missense variants in RPS20 and an association with colorectal cancer predisposition

Oncology

Speakers:

Jennifer Herrera-Mullar, Cassidy Carraway, Ashley PL Marsh, Zahra Heidari, Rachel Jones, Felicia Hernandez, Emily Kudalkar, Marcy E. Richardson

Conference:

CGA-IGC 2025

Thursday, Oct 9, 2025 1:30pm – 3:00pm

Abstract

Poster

Laboratory-driven exome reanalysis increases diagnostic yield and decreases burden on clinicians

Clinical Genomics

Session:

#227

Date:

Thursday, Oct 9, 2025 12:30pm – 1:45pm

Conference:

CNS 2025

Authors:

Meghan Towne, Melissa Holman, Catherine Schultz, Jessica Gage, Carolyn Horton, Brooklynn Gasser, Grace VanNoy

Abstract Poster

Poster

RNA and reclassification: Assessing RNA data in rare disease

Clinical Genomics

Neurology

Session:

#233

Date:

Thursday, Oct 9, 2025 12:30pm – 1:45pm

Conference:

CNS 2025

Authors:

Catherine Schultz, Jessica Gage, Jessica Grzybowski, 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

Poster