Recent advances in predicting gene-disease associations (Q33631987)

28 July 2017

1 reference

title

Recent advances in predicting gene-disease associations (English)

1 reference

28 July 2017

Nicola Mulder

2

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author name string

Kenneth Opap

series ordinal

1

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28 July 2017

publication date

26 April 2017

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28 July 2017

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28 July 2017

volume

6

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28 July 2017

page(s)

578

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Creative Commons Attribution 4.0 International

28 July 2017

copyright license

start time

26 April 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

crowdsourcing

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cites work

Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The Human Phenotype Ontology in 2017

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Analysis of protein-coding genetic variation in 60,706 humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A crowdsourcing workflow for extracting chemical-induced disease relations from free text

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Prediction and Validation of Disease Genes Using HeteSim Scores

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

ClinVar: public archive of interpretations of clinically relevant variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Next-generation diagnostics and disease-gene discovery with the Exomiser

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Human genotype-phenotype databases: aims, challenges and opportunities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

GNormPlus: An Integrative Approach for Tagging Genes, Gene Families, and Protein Domains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Sickle cell disease in tribal populations in India.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Crowdsourcing in biomedicine: challenges and opportunities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

tmChem: a high performance approach for chemical named entity recognition and normalization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Genenames.org: the HGNC resources in 2015

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Inductive matrix completion for predicting gene-disease associations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A knowledge-driven approach to extract disease-related biomarkers from the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A general framework for estimating the relative pathogenicity of human genetic variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

DNorm: disease name normalization with pairwise learning to rank

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Dizeez: an online game for human gene-disease annotation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Crowdsourcing for bioinformatics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

tmVar: a text mining approach for extracting sequence variants in biomedical literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Predicting functional effect of human missense mutations using PolyPhen-2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The Comparative Toxicogenomics Database: update 2013.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

SR4GN: a species recognition software tool for gene normalization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Computational approaches to disease-gene prediction: rationale, classification and successes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Cross-species gene normalization by species inference

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Disease Ontology: a backbone for disease semantic integration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A guide to web tools to prioritize candidate genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Toward an automatic method for extracting cancer- and other disease-related point mutations from the biomedical literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A dictionary to identify small molecules and drugs in free text

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

McKusick's Online Mendelian Inheritance in Man (OMIM)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The art and design of genetic screens: RNA interference.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Genome-wide association studies provide new insights into type 2 diabetes aetiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

A human phenome-interactome network of protein complexes implicated in genetic disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

GeneRank: using search engine technology for the analysis of microarray experiments

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

21 June 2018

Genetic linkage studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

The genetic association database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Rat Genome Database (RGD): mapping disease onto the genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Online Mendelian Inheritance in Man (OMIM).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5414807

Web Tools for the Prioritization of Candidate Disease Genes

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.12688/F1000RESEARCH.10788.1

[Orphanet: a European database for rare diseases]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28529714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

SimConcept: A Hybrid Approach for Simplifying Composite Named Entities in Biomedicine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28529714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.12688/F1000RESEARCH.10788.1

1 reference

release_hzph7zrm55ecje7fsp2yfk66uq

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hzph7zrm55ecje7fsp2yfk66uq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

5414807

1 reference

28 July 2017

1 reference