Benchmarking of variant pathogenicity prediction methods using a population genetics approach

Authors

David S. Winlaw (ORCID: https://orcid.org/0000-0001-8005-3361)
Eleni Giannoulatou (ORCID: https://orcid.org/0000-0002-7084-6736)
Sally L. Dunwoodie (ORCID: https://orcid.org/0000-0002-2069-7349)
Gillian M. Blue (ORCID: https://orcid.org/0000-0002-1480-9535)
Edwin Philip Kirk (ORCID: https://orcid.org/0000-0002-4662-0024)
L Thibaut (ORCID: https://orcid.org/0000-0003-3813-682X)
Gary F. Sholler (ORCID: https://orcid.org/0000-0003-1501-8898)
Mikhail Gudkov (ORCID: https://orcid.org/0000-0001-7008-1852)
Steven Monger (ORCID: https://orcid.org/0000-0003-4209-3092)
Natasha Nassar (ORCID: https://orcid.org/0000-0002-3720-9655)
Gavin Chapman (ORCID: https://orcid.org/0000-0002-3513-723X)
Samantha J. Lain (ORCID: https://orcid.org/0000-0002-8988-7407)
Debjani Das

Institutions

Northwestern University (US)
The University of Queensland (AU)
Victor Chang Cardiac Research Institute (AU)
UNSW Sydney (AU)
St Vincent's Health (AU)
St Vincent's Clinic (AU)
Lurie Children's Hospital (US)

Publication Details

Journal: Bioinformatics Advances
Published: 2024-12-26
DOI: https://doi.org/10.1093/bioadv/vbaf227
Citations: 1
Primary Topic: Genetics, Bioinformatics, and Biomedical Research
Type: article
Field-Weighted Citation Impact: 0.23

Funders

Victor Chang Cardiac Research Institute
Office of Health and Medical Research
New South Wales Government
Medical Research Council
National Health and Medical Research Council

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article

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie, Gillian M. Blue et al.

Dec 26, 2024

1 citations

Bioinformatics Advances

Genetics, Bioinformatics, and Biomedical Research

0.23

article

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

David S. Winlaw, Eleni Giannoulatou, Sally L. Dunwoodie, Gillian M. Blue, Edwin Philip Kirk, L Thibaut, Gary F. Sholler, Mikhail Gudkov, Steven Monger, Natasha Nassar, Gavin Chapman, Samantha J. Lain, Debjani Das

December 26, 2024article en

1 citations

Abstract

No abstract available for this paper.

Bioinformatics AdvancesVol. 5(1)

Northwestern University (US), The University of Queensland (AU), Victor Chang Cardiac Research Institute (AU), UNSW Sydney (AU), St Vincent's Health (AU), St Vincent's Clinic (AU), Lurie Children's Hospital (US)

Victor Chang Cardiac Research Institute, Office of Health and Medical Research, New South Wales Government, Medical Research Council, National Health and Medical Research Council

Openalex Percentile: Top 39%

Genetics, Bioinformatics, and Biomedical Research

0.23

DOI Open Access PDF OpenAlex

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Benchmarking of variant pathogenicity prediction methods using a population genetics approach — David S. Winlaw, Eleni Giannoulatou, et al. · Bioinformatics Advances (2024) | TGRS Research Map | TGRS