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Journal article

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Khalid Mahmood, Chol-hee Jung, Gayle Philip, Peter Georgeson, Jessica Chung, Bernard J Pope, Daniel J Park

Human Genomics | BMC | Published : 2017

DOI: 10.1186/s40246-017-0104-8

University of Melbourne Researchers

Gayle Philip's Profile Picture
Gayle Philip Author Medicine, Dentistry and Health Sciences

Bernie Pope's Profile Picture
Bernie Pope Author Medicine, Dentistry and Health Sciences

Chol-Hee Jung's Profile Picture
Chol-Hee Jung Author Medicine, Dentistry and Health Sciences

Khalid Mahmood's Profile Picture
Khalid Mahmood Author Medicine, Dentistry and Health Sciences

Daniel Park's Profile Picture
Daniel Park Author Medicine, Dentistry and Health Sciences

Grants

Funding Acknowledgements

The authors are supported by Melbourne Bioinformatics (formerly the Victorian Life Sciences Computation Initiative).

Citation metrics

29Web of Science
29Scopus
36Dimensions

Keywords

Protein Function
Functional Assays
Protein Mutations
Datasets As Topic
Databases, Genetic
Genes, P53
Algorithms
Functional Datasets
Genomic Screening
Mutation Assessment
Science & Technology
Life Sciences & Biomedicine
Pathogenicity
Genetics & Heredity
Database
Missense
Impact
Genomics
Benchmarking
Brca1
Mutation
Software
Humans
Pathogenicity Prediction
Consequences
Genes, Brca1
Variant Effect Prediction

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