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High-resolution functional mapping and clinical characterisation of CDH1 variants

Date:
Monday, Nov 2, 2026 5:10pm – 6:10pm

Conference:
CGA-IGC

Authors:
Rachid Karam, Terra Brannan, Joseph Rosenbluh
Paired DNA and RNA sequencing from 840,000 consecutive individuals: Impact on yield in inherited gastrointestinal cancer genes and therapeutic options

Date:
Monday, Nov 2, 2026 5:10pm – 6:10pm

Conference:
CGA-IGC

Authors:
Magan Trottier, Carolyn Horton, Lily Hoang, Jessica Grzybowski, Heather Zimmermann, Jesus Ramirez Castano, Sami Belhadj, Marcy E. Richardson, Rachid Karam
Attenuated Clinical Phenotypes in Individuals with Larger Deletions of the APC 1A Transcript

Date:
Monday, Nov 2, 2026 5:10pm – 6:10pm

Conference:
CGA-IGC

Authors:
Kristin Kohler, Colin C. Young, Jamie Weyandt
Dual Diagnoses from Exome Sequencing in Patients with Trisomy 21

Date:
Saturday, Oct 24, 2026 6:00pm – 7:15pm

Conference:
SDBP 2026

Authors:
Meghan Wayne, Andrew Giles, Brooklynn Gross, Shannon Terek, Grace VanNoy
Guidance from the American College of Medical Genetics and Genomics expected to reduce impact of VUS in genetic testing

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

Conference:
ASHG 2026

Authors:
Heidi Rehm (Massachusetts General Hospital)
Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2

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

Conference:
ASHG 2026

Authors:
Scott Pew (University of Utah)
Developing a Scalable Data Model Aligned with the Forthcoming Variant Classification Standards

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

Conference:
ASHG 2026

Authors:
Christine Preston (Stanford University)
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

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

Conference:
ASHG 2026

Authors:
Marsha Wheeler (University of Washington)
Project Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing (FIND-OUT): Expanded Pool and Protocol for genome sequencing in symptomatic infants

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

Conference:
ASHG 2026

Authors:
Katie Schmidt (COMBINEDBrain)
The genetic landscape of hereditary cancer in Iowa: evidence from a population geospatial analysis

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

Conference:
ASHG 2026

Authors:
Anne Frankl (University of Iowa Health Care)

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High-resolution functional mapping and clinical characterisation of CDH1 variants

Paired DNA and RNA sequencing from 840,000 consecutive individuals: Impact on yield in inherited gastrointestinal cancer genes and therapeutic options

Attenuated Clinical Phenotypes in Individuals with Larger Deletions of the APC 1A Transcript

Dual Diagnoses from Exome Sequencing in Patients with Trisomy 21

Guidance from the American College of Medical Genetics and Genomics expected to reduce impact of VUS in genetic testing

Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2

Developing a Scalable Data Model Aligned with the Forthcoming Variant Classification Standards

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

Project Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing (FIND-OUT): Expanded Pool and Protocol for genome sequencing in symptomatic infants

The genetic landscape of hereditary cancer in Iowa: evidence from a population geospatial analysis

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