Web Resources

Contents

• 1 Google DataSet Search Engine
• 2 Gene/Genome Annotations
• 3 Variome Resources
• 4 Phenome/Diseasome Resources
• 5 Interactome, Pathway/Signature Resources
• 6 Regulome Resources
• 7 Single Cell Genomics Resources
• 8 Chemical Biology and Drug Research Resources
• 9 Cancer Biology Resources
• 10 Metagenome DBs and tools
• 11 Proteome Resources
• 12 Other Resources

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Google DataSet Search Engine

• Google Dataset Search

Gene/Genome Annotations

• CCDS The concensus protein coding regions among NCBI, Ensembl, and Sanger (Havana) annotation
• GENCODE The Encyclopedia of Genes

Variome Resources

• Variation DBs

• ExAC (Exome Aggregation Consortium) Exome variation data from >60k individuals
• 1000 Genome Project Catalog of 60 million variant sites (SNV, CNV, SV), 2535 individuals from 26 populations
• UK10K Sequencing 10,000 people (4,000 healthy, 6,000 disease) in England
• Genomics England Sequencing 100,000 people in England focusing on patients with a rare disease and their families and patients with cancer.
• DiscovEHR Collaboration between the Regeneron Genetics Center (WES) and Geisinger Health System (EHR) provides the vcf by 50,000 MyCode participants
• European Variation Archive Most comprehensive and organized by studies (include Clinical variants)
• NCBI Variation Variation DBs (dbSNP, dbVar, dbGaP, ClinVar)
• iJGVD Integrative Japanese Genome Variation Database
• HGV Database The HGV database is a fully searchable online database of genome variations published in peer-reviewed Data Reports in Human Genome Variation

• Functional significance of variants

• Eigen Assign functional important scores on genetic variants in coding and noncoding regions (human only, unsupervised integration)
• CADD: Combined Annotation Dependent Depletion a tool for scoring the deleteriousness of SNV and indels (human only, supervised integration)
• GWAVA: Genome Wide Annotation of VAriants a tool which aims to predict the functional impact of non-coding genetic variants (human only, supervised integration)
• VEP Variant Effect Predictor by EBI (very easy to install and use)
• Condel Variant effect score by integration of SIFT, Polyphen2, Massessor, MAPP, Logre
• SIFT(Sorting Intolerent from Tolerent substitution)
• SIFT4G SIFT for many genomes
• PolyPhen-2 (Polymorphism Phenotyping v2) for human coding region only
• RegulomeDB Exploring DNA functional elements for noncoding variants (by Stanford, Snyder lab)
• HaplogReg Exploring DNA functional elements for noncoding variants (by MIT, Kellis lab)

Phenome/Diseasome Resources

• Human Disease DBs

• DisGeNET MetaDB for disease genes and variants (very comprehensive and open license)
• Open Targets Another very comprehensive DB for disease target (mostly protein-coding genes) and related evidence
• denovo-db a compendium of human de novo variants
• DISEASES gene-disease association from text mining (GHR, Uniprot, textmining)
• GHR Genetics Home Reference (by NCBI)
• Disease Ontology Disease ontology files FUNDO DOLite_term-to-genes map
• Human Phenotype Ontology
• OMIM Human disease DB (needs License to distribute)
• OrphaData Open database for rare diseases and orphan drug (by Orphanet)
• GAD Genetic Association Database: archive of human genetic association studies of complex diseases and disorders (includes summary data extracted from published candidate gene and GWAS studies).
• UMLS Unified Medical Language Systems
• ICD International Classification of Disease by WHO
• DGA Disease and Gene Annotation, an integrative set of disease-to-gene, gene-to-gene, disease-to-disease relationships
• GenomeRNAi v12 contains 168 human RNAi, 181 D. melanogaster RNAi screen datasets
• OGEE Online GEne Essentiality database
• Human-Mouse Disease Connection a part of MGI

• QTL depositories

• GTEx Portal eQTL for ~50 different tissue types in humans

• GWAS resources

• PheGenI Phenotype-Genotype Integrator: For a query trait, it return GWAS loci collected from all available data resources (very convenient to make a single GWAS data set for each trait)
• GWAS catalog Disease-associated variants; Now providing GWAS summary stat data
• LDHUB a centralized database of summary-level GWAS results
• Genome-wide Repository of Associations between SNPs and Phenotypes (GRASP) Better than GWAS catalog, including eQTL,QTLs
• GWASdb includes moderate SNPs (p-value < 10^-3) with manual curation from original papers; manually mapped ~1600 GWAS traits to ~500 HPO terms, ~440 DO terms, ~230 DOLite terms
• DistiLD Diseases and Traits in Linkage Disequilibrium Blocks

• Genotype raw data depositories

• Human Functional Genomics Project Raw data are available from BBMRI-NL data infrastructure
• UK Biobank Genotype and extensive phenotype data for ~500k UK people
• European Genome-phenome Archive(EGA) Raw data of GWAS, WGS, Exome-seq. A great resource for meta-analysis
• dbGaP The database of Genotypes and Phenotypes (GWAS, WGS, Exome-seq...)

• Clinical/Disease variant databases

• CGD Clinical Genomic Database
• HGMD The human gene mutation database (The professional version of DB is commercial. The public version of DB is not downloadable.)
• OMIM Germline mutations for genetic diseases
• Roche Cancer Genome Database (RCGDB) Germline/somatic mutations for cancer collected from diverse resourses (not downloadable)
• IDbase Human Immunodeficiency-causing mutation database
• NCBI ClinVar human variations and their relations to the human health (Not includes unreviewed data from GWAS)

• Others

• COGS nature resources CollaborativeOncological Gene-environment Study (GOGS): Association study using ~211,000SNPs (iCOGS) for breast, ovarian, prostate cancers.
• Personal Genome Project
• DECIPHER Developmental Diseases to Phenotypes database with public patients (very useful for rare disease genetics research)

Interactome, Pathway/Signature Resources

• Interactome DBs

• iRefWeb a web interface to PPI consolidated from 10 public DB (BIND, BioGRID, CORUM, DIP,IntAct, HPRD, MINT, MPact, MPPI, OPHID(predicted PPIs))
• STRING Known and predicted PPI
• Human Reference Interactome Project Y2H-based human protein interactions

• Pathway DBs

• Pathguide.org A very comprehensive list of pathway and network databases
• Gene Ontology by Gene Ontology Consortium
• KEGG pathways and many more
• Biocyc includes Metacyc, Ecocyc, Humancyc, Aracyc, Yeastcyc
• Reactome A manually curated and peer-reviewed pathway DB
• Pathway Interaction Database (PID) Human pathways curated by NCI-Nature/imported from BioCarta/Reactome
• CORUM Comprehensive Resource of Mammalian Protein Complexes
• NetPath A database for signaling pathways (cancer/immune signaling pathways)
• SIGNOR 11000 manually-annotated causal relationships between proteins that participate in signal transduction
• UniProt-GOA by EBI (support multi-species annotation)
• UniPathway a fully manually curated resource of metabolic pathways (cross-linked to KEGG, MetaCyc)

• Signature Gene Set DBs

• MsigDB License required for redistribution
• GeneSigDB
• DSigDB Drug signature database for gene set analysis
• L1000CDS2 Return 50 signature genes for each LINCS L1000 data set using Characteristic Direction (CD) method
• CREEDS CRowd Extracted Expression of Differential Signatures: Signature gene sets from GEO selected by crowdsourcing project using CD method

Regulome Resources

• TF and motif DB

• The Human Transcription Factors 2765 putative TFs and 1639 confident TFs by manual curation
• CIS-BP (Catalog of Inferred Sequence Binding Preferences) >300 species, >250 TF families, >160,000 TFs. CisBP collects data from >25 sources, including other database such as HOCOMOCO JASPAR UNIPROBE TRANSFAC

• Epigenomics Consortium projects

• ENCODE Encyclopedia of DNA Elements project portal
• Road map Epigenomics NIH Roda map Epigenomics project home
• International Human Epigenome Consortium (IHEC) The umbrella organization for international epigenomic efforts
• 4D Nucleome To understand the principles behind the 3D organization of the nucleus in space and time (the 4th dimension)

• Promoter DB

• EPD Eukaryotic Promoter Database; Databases of experimentally validated (by either publication or in-house assay) promoters in various organisms

• Enhancer DB

• Enhancer Atlas Human enhancers based on >=3 independent high-throughput experimental datasets (contains 2,534,123 enhancers for 76 cell lines and 29 tissues)
• dbSUPER contains 82,234 super-enhancers in 102 human and 25 mouse tissue/cell types
• HEDD Human Enhancer Disease Database (~2.8M enhancers from ENCODE, FANTOM5, RoadMap and annotations for disease, target, variant, conservation)
• DiseaseEnhancer manual curation of disease-associated enhancers

• Transcriptional Start Site (TSS) DB

• DBTTS contains 491 million TSS tag sequences for 20 tissues and 7 cell cultures in human and mouse

• Chip-seq/DNase-seq DB

• Cistrome DB the most comprehensive DB for Chip-seq and DNase-seq data

• Enhancer-Promoter Interaction DB

• JEME Computationally inferred EPI networks for 935 human primary cells, tissues, and cell lines

• microRNA list and expression atlas

• miRBase miRNA database by Manchester University
• microRNA.org download miRNA expression atlas for human, mouse, rat
• microRNAome microRNA RNA-seq based atlas for 46 primary cell types and 42 cancer or immortalized cell lines

• microRNA-target links (Gold standard)

• miRWalk2.0 Validated links from 4 databases and text minings, Predicted links from 13 prediction data sets
• miRTarBase Experimental-based microRNA-target links (most popular)

• microRNA-disease

• Human microRNA Disease Database(HMDD) Manually curated microRNA-disease links (most comprehensive)
• PhenomiR DB for dysregulated miRNA in diseases
• dbDEMC DB for dysregulated miRNA in Cancer
• miRGator data for miRNA expression, miRNA-mRNA paired expression profile, miRNA perturbation experiments...

• miRNA Target predictions

• mirDIP >150M human miRNA-target predictions collected from 30 resources with integrative score

• CLIP-seq database

• StarBase DB for CLIP-seq data

• lncRNA Resources

• FANTOM-CAT An atlas of human long non-coding RNAs with accurate 5' ends
• NONCODE Integrative annotation of long noncoding RNAs
• lncRNAdb a reference DB for long noncoding RNAs
• RAIN RNA–protein Association and Interaction Networks Intro to RAIN
• NPInter ncRNA interaction database (ncRNA and other molecules)
• RAID RNA-associated interaction DB (very comprehensive)
• LncRNADisease a DB for lncRNA associated diseases
• ncFANs a web server for functional annotation of ncRNA
• LincSNP a DB of disease-associated SNP in human lncRNA and their TFBS
• POSTAR a DB of RNA binding protein binding sites in human and mouse transcriptome (experimental and computational methods)

Single Cell Genomics Resources

• DB for scRNA-seq data analysis tools

• Awesome single cell
• scRNA-tools DB

• DB for scRNA-seq data

• Single Cell Portal scRNA-seq database by Broad Institute
• scRNASeqDB scRNA-seq database by UTHSC
• conquer A repository of consistently processed, analysis-ready single-cell RNA-seq data sets
• Jinglebells A repository of standardized single cell RNA-Seq datasets for analysis and visualization at the single cell level
• SCPortalen human and mouse single-cell centric database
• 10X Genomics Datasets by 10X Genomics

Chemical Biology and Drug Research Resources

• Drug and Bioactive chemical DBs

• Drug Repurposing Hub a best-in-class drug screening collection of >3,000 clinical drugs and their annotation (structure, MoA, protein targets)
• Drugable.com by National Library of Medicine, ~1 million chemicals, ~7000 structural pockets, ~4 millions of drug-protein interactions by docking model
• PubChem A DB contains drug structure and function by NCBI
• ChEMBL A DB contains drug structure and functions by EBI
• Drugs@FDA A DB for FDA approved drugs
• DailyMed High quality Information about marketed drugs by NCBI
• SuperDrug A DB contains 3D-structures of drugs

• Clinical Trial Information

• ClinicalTrials.gov DB for clinical trials conducted around the world

• Drug Target DBs

• A curated drug-target map by curation of ChEMBL database, DrugCentral database, canSAR knowledge base (Gold Standard drug-target)
• DGIdb An integrated Drug-Gene Interaction DB (CancerCommons, ChEMBL, CIVIC, Clearity Foundation, DoCM, DrugBank, Guid To Pharmacology MyCancerGenome, PharmGKB, Targeted Agents in Lung Cancer TDG, TEND, TTD); go to help for download batch data file
• KEGG DRUG contains information about only approved drugs
• STITCH DB for known and predicted chemical-protein interaction
• Drugbank A major DB of drug/target
• Therapeutic Target Database (TTD) A major DB of drug/target
• MATADOR Manually Annotated Targets and Drugs Online Resource
• IUPHAR/BPS Guide to Pharmacology A DB of in-depth information of drug targets and ligands
• PDSP Ki DB data warehouse for published and internally-derived Ki, or affinity of drugs at targets

• Drug signature, Pharmacogenomics, Toxicogenomics DBs

• DSigDB Drug signature database for gene set analysis
• CLUE The expanded CMap including 1.3M L1000 profiles for 27,927 perturbagens (476,251 expressions)
• iLINCS Integrated System to Analyze LINCS and other data
• Connectivity Map (CMap) 7,000 expression profiles representing 1,309 compounds
• The Comparative Toxicogenomics database(CTD) The major DB of chemical-disease links from literature curation
• TG-GATE Toxicogenomics data for >150 chemicals in rats and the primary cultured hepatocytes of rats and humans
• Chemical Effects in Biological Systems(CEBS) an integrated public repository for toxicogenomics data
• PharmGKB The Parmacogenomics Knowledgebase
• SIDER Side Effect Resource

• Drug-Gene Interaction DBs

• MOSAIC Chemical-genetic interactions in Yeast (cover >13000 compounds)

Cancer Biology Resources

• Cancer Somatic Mutations DBs

• COSMIC(The Catalog Of Somatic Mutations In Cancer) By Sanger with expert curation
• DoCM A database of functional variants validated in cancer
• CIViC A knowledgebase for expert-crowdsourcing the clinical interpretation of variants in cancer

• Cancer Somatic Mutation Visualization

• Proteinpaint Exploring genomic alteration in pediatric cancer

• Cancer Gene DBs

• CGC(Cancer Gene Census} A catalog of genes with mutations that are causally implicated in cancer (by COSMIC)
• 125 mutation-based drivers see Supple TableS2A (71 TSG and 54 OG by 20/20 rule)
• TSGene Literature-curated 1217 human TSGs (1018 protein-coding and 199 non-coding genes) and 320 protein-coding oncogenes
• CCGD(Candidate Cancer Gene Database)A database of cancer driver genes from transposon-based forward genetic screens in mice
• 77 Cancer Genes by amplification and overexpression see Supple TableS2
• NCG(The Network of Cancer Genes) (~500) CGC + (~1000) Candidate genes from Panel Seq, WES, WGS studies

• Cancer Genomics Research Gateway

• NCI Genomic Data Commons GDC provides the cancer research community with a unified data repository that enables data sharing across cancer genomic studies.
• ICGC data portal raw data from ICGC and TCGA
• TARGET(Therapeutically Applicable Research To Generate Effective Treatments) Childhood Cancer Genome Project by NCI
• PedPanCan(A Pan-Cancer Study of Childhood Cancers) by Multi-Institutes including St. Jude Children's Research Hospital
• NCI Office of Cancer Genomics OCG is dedicated to supporting cancer genomics research by sharing molecular data from its programs to enhance understanding of cancer.
• CTD2 data portal Data Portal of Cancer Target Discovery and Development program which strives to functionally validate discoveries from large-scale genomic initiatives.
• Synapse GENIE The largest public cancer genome data by ACCR (see ACCR GENIE project)
• Cancer Program Resource Gateway by Broad

• Cancer Genomics Data Analysis Cloud Platforms

• ISB-CGC Cancer Genomics Cloud by ISB
• WebMeV Analysis of large genomic data, particularly for RNASeq and microarray data (TCGA, GEO, or user-uploaded).

• Tumor Microenvironment Analysis tools

• TIMER Web server for a comprehensive TME analysis
• xCell Tumor cellular heterogeneity analysis web server; R package is also available from github

• Cancer Pharmacogenomics

• PharmacoDB Integrative database for cancer pharmacogenomics (CCLE, GDSC, CTRP, and more)
• CTRP The Cancer Therapeutics Response Portal (~550 drugs x ~890 cell lines)
• Genomics of Drug Sensitivity in Cancer (GDSC) (~250 drugs x ~1110 cell lines)
• Cancer Cell line Encyclopedia (CCLE) (~20 drugs x ~1060 cell lines)

• Cancer cell essential genes

• GenomeCRISPR A database for high-throughput CRISPR/Cas9 screening experiments
• Achilles Project shRNA-based screen for 216 cancer cell lines (v2.4.3) and CRISPR-based screen for 33 cancer cell lines (v3.3.8)
• COLT-cancer database shRNA-based essential gene profiles for 70 breast, pancreatic, ovarian cancer cell lines

Metagenome DBs and tools

• Metagenomic data central DB

• EBI Metagenomics (EMG) by EBI, UK
• MG-RAST by Argonne National Laboratory, US
• IMG/MG by Joint Genome Institute of DOE, US
• iMicrobe by Gordon Betty Moore Foundation, U of Arizona

• Human microbiome

• Integrated Reference Catalog of the Human Gut Microbiome ~9.9M genes
• Human Microbiome Project (HMP)
• The integrative HMP Microbiome-host interactions during disease progression (longitudinal studies on pregnancy, IBD, T2D)
• MetaHIT Metagenomics of the human intestinal tract
• Huttenhower Lab A great resource for analysis tools

• Bacterial strain bank

• Korean Collection for Type Cultures
• ATCC

Proteome Resources

• Human Proteome Database

• Human Proteome Map 85 samples from 17 adult tissues, 6 primary hematopoietic cells and 7 fetal tissues
• ProteomicsDB >10,000 raw data files from 60 human tissues, 147 cell lines, and 13 body fluids
• The Human Protein Atlas The tissue-based map of human proteome based on Immunohistochemistry (for 32 different tissues and organs)

• Open stand-alone software for mass spectra database search (search engines)

• MSblender A combined search engine
• MS-GFDB: Its successor MS-GF+ is faster and more sensitive for high-resolution MS data.
• X!TANDEM
• Comet: the direct descendant of Crux, which is an academic version of the commercial software SEQUEST
• MyriMatch
• OMSSA Due to budgetary constraints NCBI has discontinued OMSSA. Historical binaries are available from here.

• Protein localization and Secretome DB

• Vesiclepedia A DB for all types of Extracellular Vesicles (includes Exocarta)
• Exocarta A DB for Exosome
• EVpedia A DB for Extracellular Vesicles with many analysis software

Other Resources

• Academic society & Research Center

• ASHG American Society of Human Genetics
• AACR American Association for Cancer Research
• ESMO European Society of Medical Oncology
• IHMC The International Human Microbiome Consortium
• KSBI Korean Society of Bioinformatics
• KCA Korean Cancer Association
• KOGO Korea Genome Organization
• KSMCB Korean Society of Molecular and Cellular Biology
• KSBMB Korean Society of Biochemistry and Molecular Biology
• Yonsei Medical Research Center for Systems Medicine

• Cool software

• REVIGO Visualize GO enrichment summary
• UpSetR Shiny App Visualizes set intersections in a matrix layout and introduces aggregates based on groupings and queries; R package is also available from github
• VENNY Drawing Venn diagram

• Data-driven Omics companies

• Arivale Health coaching for wellness based on multi-omics analysis
• Human Longevity Inc.
• Pesonalis Genome-guided Medicine
• Calico Aging-related disease research company
• Numedii New Indications for Medicines
• Enterome Microbiome analysis for healthcare and drug development
• Second Genome Microbiome company
• Seres Health Microbiome company
• Vedanta Biosciences Microbiome company

• Machine Learning

• Scikit learn Open software for Machine Learning
• Machine Learning by Andrew Ng
• An Introduction To Statistical Learning Free textbook and lecture notes

• Neuroscience

• Allen Brain Atlas Data Potal Integrative gene expression and neuroanatomical data base
• Brainmap.org Published functional and structural neuroimaging (by functional MRI) database

• Others

• TEDMED TEDTALK for Medicine and healthcare problems
• Retraction watch
• Conference.city Conference search site
• Yoonsup Choi's Blog