Bioinformatics methods for identifying candidate disease genes (Q36474983)

14 August 2017

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title

Bioinformatics methods for identifying candidate disease genes (English)

1 reference

14 August 2017

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Marc A van Driel

1

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PMCID

3525160

14 August 2017

Han G Brunner

series ordinal

2

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14 August 2017

1 June 2006

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14 August 2017

1 reference

14 August 2017

2

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14 August 2017

6

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14 August 2017

429-432

1 reference

https://scigraph.springernature.com/pub.10.1186/1479-7364-2-6-429

14 August 2017

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cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

MRS: a fast and compact retrieval system for biological data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

GFINDer: genetic disease and phenotype location statistical analysis and mining of dynamically annotated gene lists

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Integration of text- and data-mining using ontologies successfully selects disease gene candidates

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Speeding disease gene discovery by sequence based candidate prioritization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Comparison of the current RefSeq, Ensembl and EST databases for counting genes and gene discovery

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Database resources of the National Center for Biotechnology Information

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Finishing the euchromatic sequence of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Mining OMIM for insight into complex diseases.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Human-Mouse Gene Searcher: a tool to assist discovery of malformation-associated genes by using phenotype databases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

From syndrome families to functional genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Genome-wide identification of genes likely to be involved in human genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

EnsMart: a generic system for fast and flexible access to biological data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

POCUS: mining genomic sequence annotation to predict disease genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

eVOC: a controlled vocabulary for unifying gene expression data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

The human phenome project

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

A new web-based data mining tool for the identification of candidate genes for human genetic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

The human genome browser at UCSC

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Association of genes to genetically inherited diseases using data mining

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Amino acid runs in eukaryotic proteomes and disease associations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

The Mouse Gene Expression Database (GXD).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Medical Subject Headings (MeSH).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Gene ontology: tool for the unification of biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Entrez: molecular biology database and retrieval system

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

SRS--an indexing and retrieval tool for flat file data libraries.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

Pattern recognition in bone dysplasias.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525160

CONREAL web server: identification and visualization of conserved transcription factor binding sites

28 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1479-7364-2-6-429

PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1479-7364-2-6-429

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1479-7364-2-6-429

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1479-7364-2-6-429

Human disease genes: patterns and predictions

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16848981

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A text-mining analysis of the human phenome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16848981

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1479-7364-2-6-429

1 reference

PMCID

3525160

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference

PMCID

3525160