Matthew Mort

发表

Analysis of Features from Protein-protein Hetero-complex Structures to Predict Protein Interaction Interfaces Using Machine Learning

Predrag Radivojac, Sean D. Mooney, Angshuman Bagchi, 2013 .

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Tom R. Gaunt, Matthew Mort, Colin Campbell, 2017, Bioinform..

Biological and functional relevance of CASP predictions

Matthew Mort, Tianyun Liu, Russ B Altman, 2017, Proteins.

Discriminating between disease-causing and neutral non-frameshifting micro-INDELs by support vector machines by means of integrated sequence- and structure-based features

Yuedong Yang, Matthew Mort, Yaoqi Zhou, 2013 .

Single base‐pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Matthew Mort, Michael Krawczak, Amke Caliebe, 2011, Human mutation.

Assisted Mining and Curation of Genomic Variants using Egas

José Luís Oliveira, Sérgio Matos, Matthew Mort, 2015 .

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Matthew Mort, Peter D Stenson, David N Cooper, 2010, Human Genomics.

IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.

Matthew Mort, Michael Krawczak, David N Cooper, 2016, Nucleic acids research.

Improving the in silico assessment of pathogenicity for compensated variants

Matthew Mort, Raquel M. Silva, Antonio Amorim, 2016, European Journal of Human Genetics.

Investigating DNA‐, RNA‐, and protein‐based features as a means to discriminate pathogenic synonymous variants

Yuedong Yang, Bela Stantic, Ping Zhang, 2017, Human mutation.

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts.

Matthew Mort, Sean D Mooney, David N Cooper, 2009, Genome research.

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

Lilia M. Iakoucheva, Predrag Radivojac, Jose Lugo-Martinez, 2017, bioRxiv.

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution

Yuedong Yang, Matthew Mort, Weixing Feng, 2017, Human Genetics.

A meta‐analysis of nonsense mutations causing human genetic disease

Matthew Mort, David N. Cooper, Nadia A. Chuzhanova, 2008, Human mutation.

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

Matthew Mort, Peter D Stenson, David N Cooper, 2009, Human Genomics.

Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073

Ken Chen, Joshua M. Korn, Afidalina Tumian, 2010 .

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Matthew Mort, Peter D. Stenson, Xiaomu Wei, 2014, PLoS genetics.

DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

Yuedong Yang, Matthew Mort, Huiying Zhao, 2013, Genome Biology.

mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural Proteome

Matthew Mort, Alberto Paccanaro, Haiyuan Yu, 2016, Human mutation.