Root Archives

Presentation

Clinical utility of Multiplexed Assays of Variant Effects (MAVEs) in a pediatric cohort

Session:

#97

Speakers:

Melissa A. Gilbert, Monica Bowen, Tristan J. Hayek, Marcy E. Richardson, Laura Conlin, Ramakrishnan Rajagopalan, Erica Smith, Ashley Marsh, Jill Murrell, Nancy B. Spinner

Conference:

MSS 2026

Wednesday, Mar 25, 2026 2:15pm – 2:30pm

Collaborators:

Children's Hospital of Philadelphia

Perelman School of Medicine at the University of Pennsylvania

Presentation

MAVE progress report, how Ambry Genetics validates and deploys high-throughput functional assays

General

Research

Session:

#98

Speakers:

Daniel Zimmerman, Sarah Dugger, Ashley Marsh, Dean Hoffer, Ana Silverstein, John Ranola, Heather Zimmermann, Sean Korpela, Marcy Richardson, Katie Yergert, Tina Pesaran

Conference:

MSS 2026

Thursday, Mar 26, 2026 12:45pm – 1:00pm

Presentation

Clinical translation of a MUTYH MAVE into a diagnostic laboratory workflow enables largescale VUS resolution

General

Session:

#99

Speakers:

Ashley P.L. Marsh, Shelby L. Hemker, Kristin Kohler, Daniel Zimmerman, Felicia P. Hernandez, Jacob O. Kitzman, Marcy E. Richardson

Conference:

MSS 2026

Wednesday, Mar 25, 2026 4:30pm – 4:45pm

Collaborators:

University of Michigan Medical School

Poster

Impact of structural biology assessment on variant interpretation and patient outcomes over ten years in a clinical diagnostic laboratory

General

Date:

Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:

ACMG 2026

Authors:

Amanda Jacquart, Caitlin Reid, Holly Laduca, Matthew Varga, Rachel Jones

Poster Abstract

Poster

To fibroblast or not to fibroblast: Outcomes and clinical features of patients pursuing confirmatory germline testing following TP53‑positive results

Oncology

Date:

Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:

ACMG 2026

Authors:

Athena Puski, Brooke Sample, Cassidy Carraway, Magan Trottier, Sarah Campian

Abstract Poster

Poster

Case report with biallelic variants in GCNT2 implicates exon 1B in congenital cataracts

Clinical Genomics

Rare Disease

Date:

Thursday, Mar 12, 2026 10:30am – 11:30am

Conference:

ACMG 2026

Authors:

Audrey O’Neill, Cindy Bayer, Dallas Reed, Emily McQuillen, Erica Smith, Meghan Towne

Poster Abstract

Poster

HiFi long‑read WGS: sequencing performance of buccal and saliva samples and estimation of non‑human DNA contamination from unaligned HiFi reads

Research

Date:

Friday, Mar 13, 2026 12:00am – 12:00am

Conference:

ACMG 2026

Authors:

Bojan Losic, David Brohawn, Emmanuele C. Delot, Erica Smith, John Harting, Kenny Chen, Sami Belhadj, Seth Berger, Stuti Joshi, Tiantian Geier, Yun-Hua Hsiao

Collaborators:

University of California, Irvine

Poster