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:

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

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:

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

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:

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

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:

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

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:

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

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:

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

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:

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

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:

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

Collaborators:

Presentation