David N. Cooper

发表

Automated inference of molecular mechanisms of disease from amino acid substitutions

Predrag Radivojac, Biao Li, Sean D. Mooney, 2009, Bioinform..

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Colin Campbell, Tom R. Gaunt, Julian Gough, 2015, Bioinform..

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing

Cheng Wang, Biao Li, Sean D. Mooney, 2014, PLoS Comput. Biol..

An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

Colin Campbell, Tom R. Gaunt, Matthew E. Mort, 2017, BMC Bioinformatics.

Mining clinical attributes of genomic variants through assisted literature curation in Egas

José Luís Oliveira, Sérgio Matos, Raquel M. Silva, 2016, Database J. Biol. Databases Curation.

Sequential data selection for predicting the pathogenic effects of sequence variation

Tom R. Gaunt, Colin Campbell, Matthew E. Mort, 2015, BIBM.

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

Yadong Wang, Yunlong Liu, Mingxiang Teng, 2012, Bioinform..

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease

Predrag Radivojac, Jose Lugo-Martinez, Sean D. Mooney, 2016, PLoS Comput. Biol..

Mutational signatures and mutable motifs in cancer genomes

Subhajyoti De, Anna R. Panchenko, Eugenia Poliakov, 2017, Briefings Bioinform..

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease

Steven Myers, Predrag Radivojac, Sean D. Mooney, 2010, BMC Bioinformatics.

Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease

Steven Myers, Predrag Radivojac, Sean D. Mooney, 2010, BMC Bioinformatics.

Domains of DNA methylation in eukaryotes : studies on their structure and function

David N. Cooper, D. Cooper, 1983 .

CRAVAT: cancer-related analysis of variants toolkit

Hannah Carter, Mark Diekhans, Peter D. Stenson, 2013, Bioinform..

In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity

Matthew E. Mort, David N. Cooper, Nadia A. Chuzhanova, 2006, Silico Biol..

Predicting the functional consequences of cancer-associated amino acid substitutions

Tom R. Gaunt, Julian Gough, Ian N. M. Day, 2013, Bioinform..

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

Lilia M. Iakoucheva, Predrag Radivojac, Sean D. Mooney, 2019, PLoS Comput. Biol..

The human gene mutation database

Michael Krawczak, David N. Cooper, Edward V. Ball, 1998, Nucleic Acids Res..

When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants

Lilia M. Iakoucheva, Predrag Radivojac, Sean D. Mooney, 2017, Bioinform..

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels

Yunlong Liu, Abdul Sattar, Yaoqi Zhou, 2015, Bioinform..

Deciphering next-generation pharmacogenomics: an information technology perspective

George Potamias, Kleanthi Lakiotaki, Theodora Katsila, 2014, Open Biology.

Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy

Manousos E. Kambouris, Vita Dolzan, Alessio Squassina, 2016, Public Health Genomics.

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

Gill Bejerano, Johannes Birgmeier, Peter D. Stenson, 2017, bioRxiv.

Guanine Holes Are Prominent Targets for Mutation in Cancer and Inherited Disease

Ming Yi, Natalia Volfovsky, Jack R. Collins, 2013, PLoS genetics.

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Jacques Fellay, Peter D. Stenson, David N. Cooper, 2018, Proceedings of the National Academy of Sciences.

The CpG dinucleotide and human genetic disease

David N. Cooper, D. Cooper, H. Youssoufian, 1988, Human Genetics.

MacArthur Protein-Coding Genes A Systematic Survey of Loss-of-Function Variants in Human

Klaudia Walter, Joseph K. Pickrell, Jennifer Harrow, 2012 .

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

Xavier Estivill, David N. Cooper, Horst Hameister, 2006, Human Genetics.

MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures

Mark Diekhans, Peter D. Stenson, Rachel Karchin, 2013, Human Genetics.

Core database

Michael Krawczak, David N. Cooper, 1995, Nature.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Michael Krawczak, Constantin Polychronakos, David N. Cooper, 2013, Human Genetics.

An estimate of unique DNA sequence heterozygosity in the human genome

Jörg Schmidtke, Howard J. Cooke, David N. Cooper, 2004, Human Genetics.

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

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

Human type I hair keratin pseudogene ϕhHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence

Michael Krawczak, David N. Cooper, D. Cooper, 2000, Human Genetics.

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.

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes

Michael Krawczak, David N. Cooper, D. Cooper, 1989, Human Genetics.

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.

Mechanisms of Base Substitution Mutagenesis in Cancer Genomes

David N. Cooper, D. Cooper, A. Bacolla, 2014, Genes.

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

David N. Cooper, Nadia A. Chuzhanova, Josef Högel, 2009, Chromosome Research.