GeneDistiller protocols

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Associated diseases

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GeneDistiller specifications

Information


Unique identifier OMICS_06557
Name GeneDistiller
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Publication for GeneDistiller

GeneDistiller in pipeline

2016
PMCID: 4714499
PMID: 26768247
DOI: 10.1186/s12881-016-0267-5

[…] analysis to homozygous changes within the roh, followed by excluding previously reported polymorphisms (fig. ).fig. 3, using the ucsc and ensembl genome browsers [, ], the omim database [], and the genedistiller2 software [], candidate genes were analyzed based on their function, expression, biological pathways, or animal models. genomic dna of the affected patients, their parents, and siblings […]


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GeneDistiller in publications

 (20)
PMCID: 5549357
PMID: 28789679
DOI: 10.1186/s12920-017-0286-x

[…] for gene prioritization. under these conditions we found 12 methods: biograph [], candid [], glad4u [], polysearch [], cipher [], guildify [], disgenet [], geneprospector [], genie [], snps3d [], genedistiller [] and metaranker []. the following methods: cipher, guildify and disgenet were not selected from the prioritization portal but from literature, however, fulfilling the same two […]

PMCID: 5466597
PMID: 28626639
DOI: 10.1016/j.ymgmr.2017.06.002

[…] impact and the conservation of the mutations , swiss-prot for the function of the proteins, nextprot for the expression pattern, mgi and omim for the phenotypes in mice and humans, and finally genedistiller2 for a combination of some of the above databases., for validation of the whole-exome sequencing data, dna was amplified by polymerase chain reaction (pcr) using primers designed […]

PMCID: 5245889
PMID: 28103310
DOI: 10.1371/journal.pone.0170280

[…] software was used to analyze the genotypes and for the identification of regions of homozygosity >2 mb []. candidate disease genes located within the homozygous intervals were identified using genedistiller software []., mutations in calpain 3 (capn3) were screened by direct sequencing using primer pairs for the 24 coding capn3 exons. all exons were amplified by pcr using hotstart taq […]

PMCID: 4908276
PMID: 27331017
DOI: 10.1016/j.mgene.2016.05.004

[…] polyphen2 and sift (). mutation taster rapidly evaluates the disease causing potential of a variant with an accuracy of 91.1 ± 0.1% by integrating information from different databases such as genedistiller, biomart, dbsnp, swissprot and uniprot (). polymorphism phenotyping v2 (polyphen2) is designed to predict the impact of amino acid alteration on protein structure and function (). […]

PMCID: 4987917
PMID: 27131783
DOI: 10.1093/nar/gkw365

[…] network with functional annotations to favor the candidate genes that interact with the seed genes (which defined the disease of interest) and also have similar functional annotations (). similarly, genedistiller uses gene-phenotype associations, gene expression patterns and protein–protein interactions among other data to propose candidate gene prioritization (). there exist other methods […]


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GeneDistiller institution(s)
Department of Neuropaediatrics, Charité University Medical School, Berlin, Germany

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