Posters Archive - Page 14 of 54 - Ambry Genetics

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Variant reclassification in a large cardiogenetic testing cohort: The importance of disease specific variant classification criteria

Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:30pm

Conference:
ACMG 2023

Authors:
Meghan Towne, MS, CGC; Melissa Holman, MS, CGC; Margo Gallegos, MS, CGC; Heather Workman, MS, CGC; Amybeth Weaver, MS, CGC; Heather Zimmermann PhD

Abstract
A plot twist: When RNA evidence challenges our expectations of DNA results

Research

Date:
Thursday, Mar 16, 2023 10:30am – 12:00pm

Conference:
ACMG 2023

Authors:
Colin Young, PhD, Carrie Horton, MS-CGC; Heather Zimmermann, PhD; Jessica Grzybowski, MS, CGC; Rachid Karam, MD, PhD

Abstract Poster
Expanding the reach of germline genetic testing: Use of web-based risk assessment to inform medical management amongst patients at breast and imaging centers

General

Date:
Friday, Dec 9, 2022 7:00am – 12:00pm

Conference:
SABCS 2022

Authors:
Heather Fecteau, Carrie Horton, Carrie Milliard, Robert Pilarski, Lukas Lyon, Shannon Kieran, Haley Keller, Lily Hoang

Abstract
New and known biases: Ordering trends and diagnostic rates of exome-based neurology panels reveal patient sex-based skewing

Clinical Genomics
Neurology
Research

Date:
Wednesday, Nov 16, 2022 8:00am – 5:00pm

Conference:
NSGC 2022

Authors:
Meghan Towne
Towards improved equity in genetic testing: The role of high throughput functional evidence in reducing population-specific disparities in variant interpretation

Research

Date:
Wednesday, Nov 16, 2022 8:00am – 5:00pm

Conference:
NSGC 2022

Authors:
Carolyn Horton
Truncating variants in 5’ exons of APC are associated with highly attenuated phenotypes and emphasize the need for genotype-phenotype correlation

Oncology
Research

Date:
Friday, Nov 11, 2022 8:00am – 4:30pm

Conference:
CGA-IGC 2022

Authors:
Jamie Weyandt, PhD

Poster Abstract
Biallelic variants in NTHL1 and MSH3 in individuals ascertained from a multigene panel testing (MGPT) cohort: A descriptive analysis

Oncology
Research

Date:
Friday, Nov 11, 2022 8:00am – 4:30pm

Conference:
CGA-IGC 2022

Authors:
Jennifer Herrera-Mullar

Abstract Poster
No nonsense: When a premature termination is not what it appears

Oncology
Research

Date:
Friday, Nov 11, 2022 8:00am – 4:30pm

Conference:
CGA-IGC 2022

Authors:
Marcy Richardson, Nelly Abualkheir, Elizabeth Chao, Jamie Weyandt, PhD, Colin Young, PhD

Poster Abstract
Double jeopardy? A closer look at cancer histories of individuals with multiple germline pathogenic variants

Oncology

Session:
#10514

Date:
Friday, Jun 3, 2022 12:00pm – 12:00am

Conference:
ASCO 2022

Authors:
Amal Yussuf, Cassidy Carraway, Huma Rana, Carolyn Horton, Min-Tzu Lo, Colin C. Young, Nihat Agaoglu, Brittany L. Bychkovsky

Poster
A systematic approach for applying disease-specific phenotype in clinical variant interpretation

Clinical Genomics

Date:
Tuesday, Mar 22, 2022 12:00am – 12:00pm

Conference:
ACMG 2022

Authors:
Steven Harrison, Emily Groopman, Jennifer Goldstein, Shannon McNulty, Justyne Ross, Kelsea Chang, Jonathan Berg

Collaborators:

Boston Children's Hospital
Broad Institute of MIT and Harvard
University of North Carolina at Chapel Hill

Abstract

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