Steven M Harrison

13PUBLICATIONS
62CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Software testing, verification and validationProteomics and metabolomicsDecision makingComputational linguistics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (13)

|Nov 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen

|Sep 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.

Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau

|Mar 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Sarah L Stenton, Vikas Pejaver, Timothy Bergquist

|Dec 19, 2021
Harmonizing variant classification for return of results in the All of Us Research Program.

Steven M Harrison, Christina A Austin-Tse, Serra Kim

|Oct 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

Christian R Marshall, Shimul Chowdhury, Ryan J Taft

|Nov 23, 2019
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar.

Steven M Harrison, Heidi L Rehm

Pageof 3

Frequent Collaborators

9 joint publications

Heidi L Rehm

3 joint publications

Sean V Tavtigian

2 joint publications

Timothy Bergquist

2 joint publications

Marc S Greenblatt