VarSite: Disease variants and protein structure

How good are pathogenicity predictors in detecting benign variants?

(2019) Abhishek Niroula et al.   PLoS Computational Biology

HuVarBase: A human variant database with comprehensive information at gene and protein levels

(2019) Kaliappan Ganesan et al.   PLoS One

Can Predicted Protein 3D Structures Provide Reliable Insights into whether Missense Variants Are Disease Associated?

(2019) Sirawit Ittisoponpisan et al.   JOURNAL OF MOLECULAR BIOLOGY

PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants

(2019) Tochukwu C. Ofoegbu et al.   JOURNAL OF MOLECULAR BIOLOGY

VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations

(2019) James D Stephenson et al.   BIOINFORMATICS

VIPdb, a genetic Variant Impact Predictor Database

(2019) Zhiqiang Hu et al.   HUMAN MUTATION

ClinVar at five years: Delivering on the promise

(2018) Melissa J. Landrum et al.   HUMAN MUTATION

A resource of variant effect predictions of single nucleotide variants in model organisms

(2018) Omar Wagih et al.   Molecular Systems Biology

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

The BioGRID interaction database: 2019 update

(2018) Rose Oughtred et al.   NUCLEIC ACIDS RESEARCH

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2019

(2018) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

TRRUST v2: an expanded reference database of human and mouse transcriptional regulatory interactions

(2017) Heonjong Han et al.   NUCLEIC ACIDS RESEARCH

The Reactome Pathway Knowledgebase

(2017) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

PDBsum: Structural summaries of PDB entries

(2017) Roman A. Laskowski et al.   PROTEIN SCIENCE

CATH: an expanded resource to predict protein function through structure and sequence

(2016) Natalie L. Dawson et al.   NUCLEIC ACIDS RESEARCH

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2016) Christopher J. Mungall et al.   NUCLEIC ACIDS RESEARCH

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

The Pfam protein families database: towards a more sustainable future

(2015) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

3Dmol.js: molecular visualization with WebGL

(2014) N. Rego et al.   BIOINFORMATICS

CATH: comprehensive structural and functional annotations for genome sequences

(2014) Ian Sillitoe et al.   NUCLEIC ACIDS RESEARCH

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

(2008) J. Amberger et al.   NUCLEIC ACIDS RESEARCH