Matthew S. Lebo

Medical Genetics

65 Landsdowne St
Cambridge, MA 02139

Last Updated: 09/26/2026

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Found 106 publications

Language models reveal evidence gaps in variants of uncertain significance.

Language models reveal evidence gaps in variants of uncertain significance.

Journal: medRxiv : the preprint server for health sciences

Published: March 23, 2026

Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.

Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.

Journal: Archives of pathology & laboratory medicine

Published: November 25, 2025

Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.

Phenotype-Driven In Silico Proficiency Testing Represents a Viable Approach for Undiagnosed Disorders by Exome Sequencing.

Journal: Archives of pathology & laboratory medicine

Published: November 25, 2025

Precision Grounding: augmenting large language models with evidence-based databases for trustworthy genetic variant summarization.

Precision Grounding: augmenting large language models with evidence-based databases for trustworthy genetic variant summarization.

Journal: International journal of medical informatics

Published: October 28, 2025

Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions.

Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions.

Journal: Journal of the American College of Cardiology

Published: August 14, 2025

Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.

Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.

Journal: medRxiv : the preprint server for health sciences

Published: June 30, 2025

Extracting and calibrating evidence of variant pathogenicity from population biobank data.

Extracting and calibrating evidence of variant pathogenicity from population biobank data.

Journal: medRxiv : the preprint server for health sciences

Published: June 04, 2025

Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.

Electronic health records-based algorithms to screen for U.S. Centers for Disease Control and Prevention tier 1 genetic diseases: a scoping review.

Journal: Journal of the American Medical Informatics Association : JAMIA

Published: May 28, 2025

Extracting and calibrating evidence of variant pathogenicity from population biobank data.

Extracting and calibrating evidence of variant pathogenicity from population biobank data.

Journal: American journal of human genetics

Published: May 14, 2025

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.

Journal: Genetics in medicine open

Published: May 07, 2025

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).

Journal: Genetics in medicine open

Published: April 14, 2025

Longitudinal Evaluation of Genetic Hypertrophic Cardiomyopathy Penetrance and Transition to Disease in an Academic Biobank.

Longitudinal Evaluation of Genetic Hypertrophic Cardiomyopathy Penetrance and Transition to Disease in an Academic Biobank.

Journal: JACC. Advances

Published: January 31, 2025

Showing 1-12 of 106

Last Updated: 09/26/2026