Matthew Mort

Cardiff University

United Kingdom

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Articles (10)

Year:

2025

Year:

2024

Year:

2024

Year:

2024

Year:

2024

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2024

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2024

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2022

Year:

2021

Year:

2021

Collaborators (12)

Marcus Breese

University of California, San Francisco

UNITED STATES

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Mark Yarborough

Dean's Professor of Bioethics

University of California Davis School of Medicine

UNITED STATES

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David N. Cooper

Professor of Human Molecular Genetics

Cardiff University School of Medicine

UNITED KINGDOM

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Maria Chiara Scaini

Istituto Oncologico Veneto Istituto di Ricovero e Cura a Carattere Scientifico

ITALY

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Ben Omega Petrazzini

University of Oxford

UNITED KINGDOM

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Francesco Benedicenti

ITALY

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Xiaoming Liu

UNITED STATES

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Lukas Folkman

Lecturer in Information Technology

Southern Cross University

AUSTRALIA

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Sudhakaran Prabakaran

Associate Professor

Northeastern University

UNITED STATES

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Nicholas Jones

Swansea University

UNITED KINGDOM

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Hannah Deborah West

Senior Lecturer

Cardiff University

UNITED KINGDOM

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Muralidhar Hegde

Professor

Houston Methodist Research Institute

UNITED STATES

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Matthew Mort

Research Interests

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Articles (10)

Critical assessment of missense variant effect predictors on disease-relevant variant data

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis

Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score

Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

Accurate identification of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework.

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin

A platform for curated products from novel open reading frames prompts reinterpretation of disease variants

Collaborators (12)

Marcus Breese

Mark Yarborough

David N. Cooper

Maria Chiara Scaini

Ben Omega Petrazzini

Francesco Benedicenti

Xiaoming Liu

Lukas Folkman

Sudhakaran Prabakaran

Nicholas Jones

Hannah Deborah West

Muralidhar Hegde

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