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High-performance web services for querying gene and variant annotation

Journal Article · · Genome Biology (Online)
 [1];  [2];  [3];  [3];  [4];  [4];  [3];  [3];  [5];  [5];  [6];  [7];  [8];  [4];  [9];  [3]
  1. The Scripps Research Inst., La Jolla, CA (United States). Dept. of Molecular and Experimental Medicine; DOE/OSTI
  2. The Scripps Research Inst., La Jolla, CA (United States). Dept. of Molecular and Experimental Medicine; Avera Cancer Inst., La Jolla, CA (United States)
  3. The Scripps Research Inst., La Jolla, CA (United States). Dept. of Molecular and Experimental Medicine
  4. Univ. of Washington, Seattle, WA (United States). Dept. of Biomedical Informatics and Medical Education
  5. Washington Univ., St. Louis, MO (United States). School of Medicine, McDonnell Genome Inst.
  6. The Scripps Research Inst., La Jolla, CA (United States). Dept. of Integrative Structural and Computational Biology and The Scripps Translational Science Inst.
  7. Univ. of California, San Diego, CA (United States). Center for Research in Biological Systems
  8. Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
  9. The Scripps Research Inst., La Jolla, CA (United States). Dept. of Molecular and Experimental Medicine and The Scripps Translational Science Inst.
Efficient tools for data management and integration are essential for many aspects of high-throughput biology. In particular, annotations of genes and human genetic variants are commonly used but highly fragmented across many resources. Here, we describe MyGene.info and MyVariant.info, high-performance web services for querying gene and variant annotation information. These web services are currently accessed more than three million times permonth. They also demonstrate a generalizable cloud-based model for organizing and querying biological annotation information. MyGene.info and MyVariant.info are provided as high-performance web services, accessible at http://mygene.info and http://myvariant.info. Both are offered free of charge to the research community.
Research Organization:
Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States); Univ. of California, San Diego, CA (United States)
Sponsoring Organization:
National Center for Advancing Translational Sciences (NCATS); National Institutes of Health (NIH); USDOE Office of Science (SC)
Grant/Contract Number:
AC02-05CH11231
OSTI ID:
1626935
Journal Information:
Genome Biology (Online), Journal Name: Genome Biology (Online) Journal Issue: 1 Vol. 17; ISSN 1474-760X
Publisher:
BioMed CentralCopyright Statement
Country of Publication:
United States
Language:
English

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DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene journal November 2018
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer journal January 2017
Parsimonious Gene Correlation Network Analysis (PGCNA): a tool to define modular gene co-expression for refined molecular stratification in cancer journal April 2019
The Adipocyte Acquires a Fibroblast-Like Transcriptional Signature in Response to a High Fat Diet journal February 2020
Integrative epigenetic and genetic pan-cancer somatic alteration portraits journal July 2017
Blockade of Stat3 oncogene addiction induces cellular senescence and reveals a cell-nonautonomous activity suitable for cancer immunotherapy journal January 2020
Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium journal July 2017
VarCards: an integrated genetic and clinical database for coding variants in the human genome journal November 2017
minepath.org: a free interactive pathway analysis web server journal April 2017
ResponseNet v.3: revealing signaling and regulatory pathways connecting your proteins and genes across human tissues journal May 2019
Defining common principles of gene co-expression refines molecular stratification in cancer posted_content July 2018
DSNetwork: An integrative approach to visualize predictions of variants' deleteriousness journal January 2019
Canary: an atomic pipeline for clinical amplicon assays journal December 2017
Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration journal February 2018
The transcriptional correlates of divergent electric organ discharges in Paramormyrops electric fish journal January 2020
MySeq: privacy-protecting browser-based personal Genome analysis for genomics education and exploration journal November 2019
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations journal October 2019
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants journal January 2017
Standard operating procedure for curation and clinical interpretation of variants in cancer journal November 2019
Clinotator: analyzing ClinVar variation reports to prioritize reclassification efforts journal January 2018
Biobtree: A tool to search and map bioinformatics identifiers and special keywords journal January 2019
Transcriptomic correlates of electrophysiological and morphological diversity within and across excitatory and inhibitory neuron classes journal June 2019
The Subclonal Architecture of Metastatic Breast Cancer: Results from a Prospective Community-Based Rapid Autopsy Program “CASCADE” journal December 2016
Genotify: Fast, lightweight gene lookup and summarization journal August 2018
Age-Related Gene Expression in the Frontal Cortex Suggests Synaptic Function Changes in Specific Inhibitory Neuron Subtypes journal May 2017
Resources for Interpreting Variants in Precision Genomic Oncology Applications journal September 2017
Big Data Analytics for Genomic Medicine journal February 2017
Identification of key gene modules and transcription factors for human osteoarthritis by weighted gene co‑expression network analysis journal August 2019
ClinGen Allele Registry links information about genetic variants journal October 2018
Geometric characterisation of disease modules journal June 2018
Aminode: Identification of Evolutionary Constraints in the Human Proteome journal January 2018
In silico analysis of alternative splicing on drug-target gene interactions journal January 2020
Comparison of single and module-based methods for modeling gene regulatory networks journal July 2019
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species journal November 2016
Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: Findings from the Pregnancy and Childhood Epigenetics (PACE) consortium posted_content June 2017
Resources for Interpreting Variants in Precision Genomic Oncology Applications posted_content August 2017
Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration posted_content July 2017
A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants journal October 2018
Stably expressed genes in single-cell RNA-sequencing posted_content November 2018
Retrieval of whole human genome clinical variant information through search motors posted_content April 2019
Integration of Structured Biological Data Sources using Biological Expression Language posted_content May 2019
Extracting T Cell Function and Differentiation Characteristics from the Biomedical Literature posted_content September 2019
The CIViC knowledge model and standard operating procedures for curation and clinical interpretation of variants in cancer posted_content July 2019
SRPK3 regulates alternative pre-mRNA splicing required for B lymphocyte development and humoral responsiveness posted_content September 2019
Stably expressed genes in single-cell RNA sequencing journal February 2020
Computational identification of deleterious synonymous variants in human genomes using a feature-based approach journal January 2019
Somatic synonymous mutations in regulatory elements contribute to the genetic aetiology of melanoma journal April 2020
Using single‐cell multiple omics approaches to resolve tumor heterogeneity journal December 2017
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Providing gene-to-variant and variant-to-gene database identifier mappings to use with BridgeDb mapping services. journal January 2018
Biobtree: A tool to search and map bioinformatics identifiers and special keywords journal January 2019
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants text January 2017
Geometric characterisation of disease modules text January 2018


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