Clinical Genomics Archives

Poster

High-throughput allele-specific expression analysis can detect allelic imbalance in clinical patient samples as a proxy for quantitative measures of gene expression

Clinical Genomics

Research

Date:

Friday, Nov 3, 2023 3:00pm – 5:00pm

Conference:

ASHG 2023

Authors:

Heather Zimmermann, Elizabeth Chao, Rachid Karam, PhD, Hoda Mirsafian, Laura Hudish, Sami Belhadj, Donavan Cheng, Matthew Schultz

Poster Abstract

Poster

Splice mutations and digital anomalies extend the genotypic and phenotypic spectrum of Kim-Gusella Syndrome in PHF21A patients

Clinical Genomics

Research

Date:

Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:

ASHG 2023

Authors:

Meghan Towne, Afif Ben-Mahmoud, Vijay Gupta, Maria Irene Scarano, Saskia M. Maas, Marielle Alders, Isabelle Rouvet, Emilia K. Bijlsma, Lilian L Cohen, Solveig Heide, Boris Keren, Kristina Sorensen, Aia Elise Jonch, Tova Hershkovitz, Owens Josh, Seong-In Hyun, Joe Farris, Ahmad Abou Tayoun, Diego Lopergolo, Dmitriy Niyazov, Jennifer Jacober, Vanda McNiven, Fung Charlotte, Hyung-Goo Kim

Abstract Poster

Poster

Application of deep mutational scanning data for MLH1 variant interpretation

Clinical Genomics

Research

Date:

Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:

ASHG 2023

Authors:

Felicia Hernandez, Rachid Karam, PhD, Anthony Scott, Xiaoyan Jia, Grace Clark, Sajini Jayakody, Bala Burugula, Jacob Kitzman, Ashley P.L. Marsh, Sami Belhadj, Matthew Varga

Poster Abstract

Poster

The ClinGen-InSiGHT MUTYH Variant Curation Expert Panel: Lessons learned and a call to action

Clinical Genomics

Date:

Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:

ASHG 2023

Authors:

Felicia Hernandez, Emily AW Nadeau, Cristina Rioja, Marta Pineda, Monica Thet, Andreas Laner, Daniel Buchanan, Jesús del Valle, Ester Borras, Chris Heinen, Ian Frayling, Khalid Mahmood, Matthew Johnson, Peter Georgeson, Rhianna Urban, Sheila David, Susan Farrington, Thomas van Overeem Hansen, Wei Shen, Xuemei Shi, Sherry Yin, Deborah Ritter, Pilar Mur, Isabel Quintana, Andrew Latchford, Finlay Macrae, Sean Tavtigian, Gabriel Capellá, Marc Greenblat

Abstract Poster

Poster

Do candidate genes increase clinical utility of hereditary cancer panels? When less is more

Clinical Genomics

Oncology

Date:

Thursday, Nov 2, 2023 3:00pm – 5:00pm

Conference:

ASHG 2023

Authors:

Jennifer Herrera-Mullar, Devon Lamb Thrush, Kelly Radtke, Bess Wayburn, Meghan C. Towne, Carolyn Horton, Amybeth Weaver, Jennifer M. Huang

Poster Abstract

Poster

Validation of patient-facing digital tool risk stratification of those at risk for hereditary cancer syndrome: The CARE program accurately identifies high risk individuals

Clinical Genomics

Date:

Thursday, Oct 19, 2023 4:30pm – 6:30pm

Conference:

NSGC 2023

Authors:

Heather Fecteau, Carrie Horton, Carrie Milliard, Robert Pilarski, Devon Lamb Thrush, Lukas Lyon, Shannon Kieran, Haley Keller, Deepika Nathan, Sarah Siddiqui

Poster Abstract

Poster

Splicing up the diagnosis: Using targeted RNA studies to reclassify exome sequencing variants

Clinical Genomics

Date:

Thursday, Oct 19, 2023 5:30pm – 7:00pm

Conference:

NSGC 2023

Authors:

Meghan Towne, Jessica Grzybowski, Jessica Gage, Heather Zimmermann, Jesus Ramirez Castano

Abstract Poster

Poster

Always better when we’re together: A novel, collaborative multi-stakeholder coalition enhances national guidelines for hereditary cancer testing and detection

AmbryShare

Clinical Genomics

Oncology

Date:

Wednesday, Oct 18, 2023 5:30pm – 7:00pm

Conference:

NSGC 2023

Authors:

Robert Pilarski, Jessica Grzybowski, Lisa Schlager, Emily K. Dalton, Lauren Sferrazza, Ann Marie Miller, Shelly Cummings, Kelli Conlan, Kristen Postula, Rebecca Johnson, Robin Dubin, Fred Struve

Collaborators:

Presentation