Timothy Bergquist

12PUBLICATIONS

70CO-AUTHORS

Forensic epidemiologyGene expression (incl. microarray and other genome-wide approaches)Psycholinguistics (incl. speech production and comprehension)Software testing, verification and validationModelling and simulation

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Publications (12)

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|May 29, 2026

A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.

|Apr 27, 2026

Calibration of in-frame indel variant effect predictors for clinical variant classification.

|Feb 27, 2026

Gene- and domain-aware calibration increases the clinical utility of variant effect predictors.

Yile Chen, Shawn Fayer, Shantanu Jain

|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

|May 06, 2024

Federated benchmarking of medical artificial intelligence with MedPerf.

Alexandros Karargyris, Renato Umeton, Micah J Sheller

|Mar 18, 2024

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Sarah L Stenton, Vikas Pejaver, Timothy Bergquist

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Frequent Collaborators

Vikas Pejaver

Predrag Radivojac

Steven E Brenner

Benjamin Bates

Qianqian Song

Vithal Madhira

Umit Topaloglu

Yu Raymond Shao

Feifan Liu

Anne O'Donnell-Luria

Frequent Collaborators

Vikas Pejaver

Predrag Radivojac

Steven E Brenner

Benjamin Bates