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Saturation Mapping of MSH2 Splicing Effects to Resolve Variants of Uncertain Significance in Lynch Syndrome

Date:
Friday, Oct 23, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Connor Ward
Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity

Date:
Friday, Oct 23, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Kristin Kohler, PhD

Abstract
A Computable Framework for Sequence Variant Classification v4 Criteria Specifications within the ClinGen CSpec Registry

Date:
Thursday, Oct 22, 2026 4:15pm – 6:15pm

Conference:
ASHG 2026

Authors:
Neethu Shah (Baylor College of Medicine)
A Generalizable Translational Genomics Data Platform built using the GREGoR Consortium

Date:
Thursday, Oct 22, 2026 4:15pm – 6:15pm

Conference:
ASHG 2026

Authors:
Charles King (UC Irvine)
Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification

Date:
Thursday, Oct 22, 2026 4:15pm – 6:15pm

Conference:
ASHG 2026

Authors:
Steven Harrison
Concurrent long-read genome sequencing with methylation pattern analysis enhances diagnostic yields in the UCI-GREGoR rare disease cohort

Date:
Thursday, Oct 22, 2026 2:03pm – 2:06pm

Conference:
ASHG 2026

Authors:
Seth Berger
Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Scott Pew (University of Utah)

Abstract
Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
—

Authors:
Brooklynn Gross (Ambry Genetics)
Concurrent Long-Read Genome Sequencing with Methylation Pattern Analysis Enhances Diagnostic Yields in the UCI-GREGoR Rare Disease Cohort

Date:
Wednesday, Oct 21, 2026 2:03pm – 2:06pm

Conference:
ASHG 2026

Authors:
Seth Berger (Ambry)

Abstract Poster
Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short- read RNA sequencing

Date:
Wednesday, Oct 21, 2026 2:30pm – 4:30pm

Conference:
ASHG 2026

Authors:
Chris Hatch

Abstract Poster

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