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

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
Cancer Prevalence in MSH3 Heterozygotes

Oncology

Date:
Friday, Oct 10, 2025 5:00pm – 6:00pm

Conference:
CGA-IGC 2025

Authors:
Cassidy Carraway, Jennifer Herrera-Mullar, Kevin Beezhold

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

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

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

Oncology

Date:
Thursday, Oct 9, 2025 6:00pm – 7:00pm

Conference:
CGA-IGC 2025

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

Collaborators:

Icahn School of Medicine at Mount Sinai
WCG Clinical Inc.

Abstract
What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

Clinical Genomics

Session:
#63

Date:
Sunday, Sep 21, 2025 8:00am – 9:00am

Conference:
SDBP 2025

Authors:
Carolyn Horton, Grace E. VanNoy, Marcy E. Richardson, Meghan C. Towne, Nida Karra

Poster Abstract
What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

Clinical Genomics

Date:
Saturday, Sep 20, 2025 10:00am – 8:30pm

Conference:
SDBP 2025

Authors:
Nida Karra
HiFi long-read wgs: Sequencing performance of buccal/saliva samples and estimation of non-human DNA contamination from unaligned HiFi reads

General
Research

Date:
Thursday, Sep 11, 2025 12:00pm – 1:00pm

Conference:
GREGoR Annual Meeting 2026

Authors:
Emmanuèle Délot, Erica Smith, Eric Vilain, Kenny Chen, Rachid Karam, PhD, Sami Belhadj, Seth Berger, Stuti Joshi, Tiantian Geier

Collaborators:

University of California, Irvine

Poster
Development of population frequency thresholds specific for rare neurodevelopmental disorders

Neurology

Date:
Thursday, Jun 12, 2025 6:10pm – 7:10pm

Conference:
CCG 2025

Authors:
Audrey O’Neill, Claire Watson, Dana Burow, Katie Yergert, Laura Hudish, Matthew Johnson, Melissa Samons, Steven Harrison, Wendy Alcaraz

Abstract Poster

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

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

Cancer Prevalence in MSH3 Heterozygotes

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

RNA and reclassification: Assessing RNA data in rare disease

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

What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

What comes first, the exome or the array? A comparative study of results from chromosomal microarrays and exome sequencing

HiFi long-read wgs: Sequencing performance of buccal/saliva samples and estimation of non-human DNA contamination from unaligned HiFi reads

Development of population frequency thresholds specific for rare neurodevelopmental disorders

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