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The missing piece: Targeted RNA studies reduce uncertainty and increase diagnostic yield

General

Date:
Saturday, Nov 8, 2025 5:00pm – 6:00pm

Conference:
NSGC 2025

Authors:
Jessica Gage, Heather Zimmermann, Meghan C. Towne, Grace E. VanNoy, Brooklynn Gasser

Poster Abstract
Long-read genome sequencing resolves genetic cases missed by short-read sequencing

Clinical Genomics
Research

Session:
#4069

Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Erica Smith, Rachid Karam, PhD, Greta Pitsava, Krista Bluske, Ivan De Dios, Rebekah Barrick, Sami Belhadj, Miguel Almalvez, Arthur Ko, Lightning Auriga, Changrui Xiao, Emmanuèle C. Délot, Seth Berger, Eric Vilain

Collaborators:

Children's National Research Institute
University of California, Irvine

Poster Abstract
Targeted RNA studies offer new opportunities to reduce uncertainty and increase diagnostic yield

General
Research

Session:
#4004

Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Meghan Towne, Jessica Gage, Heather Zimmermann, Brooklynn Gasser, Grace VanNoy

Abstract Poster
Isoform-specific loss of function variants in CDKN2A and their association with cancer phenotypes

Oncology

Session:
#9007

Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Cassidy Carraway, Colin Young, PhD, Jamie Weyandt, PhD, Kristin Kohler, Carolyn Horton

Abstract Poster
Low allele fraction, high stakes: Discerning germline mosaic TP53 variants from clonal hematopoiesis of indeterminate potential (CHIP)

Session:
#9005

Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:
ASHG 2025

Authors:
Marcy E. Richardson, Magan Trottier, Kristin Kohler, Cassidy Caraway, Jennifer Herrara-Mullar

Abstract Poster
A comprehensive, clinically calibrated MAVE (multiplex assay of variant effect) for the human MutLɑ complex genes MLH1 and PMS2

Oncology
Research

Session:
#5039

Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm

Conference:
ASHG 2025

Authors:
Felicia Hernandez, Sebastian A. Vishnopolska, Ashley P.L. Marsh, Xiaoyan Jia, Shelby Hemker, Elena Glick, Veronica Glaser, Anthony Scott, Jacob O. Kitzman

Collaborators:

University of Michigan

Abstract
Expanding and automating the calibration of computational tools for clinical variant classification

General
Research

Session:
#2023

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

Conference:
ASHG 2026

Authors:
Vikas Pejaver, Himanshu Sharma, Timothy Bergquist, Sarah L. Stenton, Emily A. W. Nadeau, Alicia B. Byrne, Marc S Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Anne O’Donnell-Luria, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner

Collaborators:

Boston Children's Hospital
Broad Institute of MIT and Harvard
Icahn School of Medicine at Mount Sinai
National Institutes of Health
Northeastern University
University of California, Berkeley
University of Utah
University of Vermont Cancer Center

Abstract
The limits of Mendelian assumptions in genomic diagnostics: Evidence from longread whole genome sequencing and exome analysis

Clinical Genomics

Session:
#7031

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

Conference:
ASHG 2025

Authors:
Kirsten Blanco, Elizabeth Chao, Kelly Radtke, Rachid Karam, PhD, Erica D Smith, Greta Pitsava, Krista Bluske, Changrui Xiao, Rebekah Barrick, Ivan De Dios, Eric Vilain, Emmanuèle C. Délot, Seth Berger

Collaborators:

Children's Hospital of Orange County, CA (CHOC)
University of California, Irvine

Abstract Poster
An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

Oncology

Session:
#9017

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

Conference:
ASHG 2025

Authors:
Marcy E. Richardson, Carrie Horton, Taylor D. Coleman, Magan Trottier, Linda Polfus, Leah Zaretsky, Aimee Lucas

Collaborators:

Icahn School of Medicine at Mount Sinai

Abstract 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:
CNS 2026

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

… …

Scientific Posters

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The missing piece: Targeted RNA studies reduce uncertainty and increase diagnostic yield

Long-read genome sequencing resolves genetic cases missed by short-read sequencing

Targeted RNA studies offer new opportunities to reduce uncertainty and increase diagnostic yield

Isoform-specific loss of function variants in CDKN2A and their association with cancer phenotypes

Low allele fraction, high stakes: Discerning germline mosaic TP53 variants from clonal hematopoiesis of indeterminate potential (CHIP)

A comprehensive, clinically calibrated MAVE (multiplex assay of variant effect) for the human MutLɑ complex genes MLH1 and PMS2

Expanding and automating the calibration of computational tools for clinical variant classification

The limits of Mendelian assumptions in genomic diagnostics: Evidence from longread whole genome sequencing and exome analysis

An update on APC p.I1307K homozygosity: Observations from 74 individuals from a large multigene panel testing cohort

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

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