Research Archives

Presentation

Disparities in the uptake of cascade genetic testing among family members of mutation-positive Lynch and HBOC syndrome patients

Oncology

Research

Speakers:

Elia Namey

Conference:

CGA-IGC 2022

Friday, Nov 11, 2022 2:30pm – 4:15pm

Collaborators:

University of Pittsburgh Medical Center (UPMC)

Presentation

Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer

Oncology

Research

Speakers:

Beth Dudley

Conference:

CGA-IGC 2022

Friday, Nov 11, 2022 2:30pm – 4:15pm

Collaborators:

University of Pittsburgh Medical Center (UPMC)

Abstract

Presentation

A deep dive into APC introns: Paired DNA/RNA testing identifies novel FAP and AFAP alleles in the deep intronic regions of APC

Oncology

Research

Speakers:

Colin Young

Conference:

CGA-IGC 2022

Sunday, Nov 13, 2022 10:55am – 12:55pm

Abstract

Poster

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

Poster

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

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

Presentation

From bench to clinical report: Application of RNA and functional MAVEs to reduce VUS and improve positive yield of genetic testing

Research

Speakers:

Rachid Karam PhD., Executive Director, Clinical & Translation Research, Ambry Genetics, Anthony Scott, MD, PhD, Clinical Assistant Professor of Internal Medicine, Division of Genetic Medicine, University of Michigan Medical School

Conference:

CGA-IGC 2022

Saturday, Nov 12, 2022 12:20pm – 1:20pm

Poster

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

Oncology

Research

Session:

#3046

Date:

Thursday, Oct 18, 2018 3:00pm – 4:00pm

Conference:

ASHG 2018

Authors:

Jill Dolinsky, Steven M. Harrison, Wenjie Chen, Alison Coffey, Christin D. Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Izabela Karbassi, Amy E. Knight Johnson, Juha W. Koskenvuo, Hane Lee, Rong Mao, Ales Maver, Rebecca Mar-Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni B. Santani, Carol Saunders, Eija H. Seppälä, Brian Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy Vinette, Heidi L. Rehm

Collaborators:

ClinVar

Harvard University

Abstract

Poster

BayesDel and REVEL outperform other in silico meta-predictors for variant classification

Research

Session:

#463

Date:

Friday, Oct 19, 2018 3:00pm – 4:00pm

Conference:

ASHG 2018

Authors:

Adam Chamberlin, Tina Pesaran, MA, MS, CGC, Mary Helen Black, Yuan Tian, FENW, Chia-Ling Gau, PhD, DABMG, Hsiao-Mei Lu, Dajun Qian

Poster

VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation

Oncology

Research

Session:

#682

Date:

Thursday, Oct 18, 2018 3:00pm – 4:00pm

Conference:

ASHG 2018

Authors:

Carrie Horton, Kelly McGoldrick, Tina Pesaran, MA, MS, CGC, Deborah I. Ritter, C. Badduke, M. Anderson, K. Clark, R.H. Giles, M. Griffith, O. Griffith, K. Hruska, C. Kesserwan, K. Krysiak, L. Kujan, M. Luo, J. Machado, E. Maher, R. Patel, T. Stockley, A. Tirosh, Y. Wang, S.E. Plon, R.H. Kim, ClinGen VISION VHL Expert Panel

Collaborators:

Baylor College of Medicine

Research

Disparities in the uptake of cascade genetic testing among family members of mutation-positive Lynch and HBOC syndrome patients

Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer

A deep dive into APC introns: Paired DNA/RNA testing identifies novel FAP and AFAP alleles in the deep intronic regions of APC

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

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

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

From bench to clinical report: Application of RNA and functional MAVEs to reduce VUS and improve positive yield of genetic testing

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

BayesDel and REVEL outperform other in silico meta-predictors for variant classification

VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation

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