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Protocols

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 citations

 (14)
library_books

A non mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

2017
PMCID: 5466597
PMID: 28626639
DOI: 10.1016/j.ymgmr.2017.06.002

[…] tional 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. […]

library_books

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

2017
Orphanet J Rare Dis
PMCID: 5427524
PMID: 28494813
DOI: 10.1186/s13023-017-0641-1

[…] nctional impact of variants was analyzed by Combined Annotation Dependent Depletion (CADD) V.1.3 and dbNSFP Support Vector Machine (SVM) V.2.9 algorithms [, ]. Variant prioritization was performed by GeneDistiller []. All variants identified by NGS were validated by Sanger sequencing.RNA was extracted from skin fibroblasts and 1 μg was used as template for reverse transcriptase PCR (RT-PCR) to obt […]

library_books

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

2016
PMCID: 4908276
PMID: 27331017
DOI: 10.1016/j.mgene.2016.05.004

[…] Taster, 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 (). The ou […]

library_books

Candidate gene prioritization with Endeavour

2016
Nucleic Acids Res
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 that d […]

call_split

A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy

2016
BMC Med Genet
PMCID: 4714499
PMID: 26768247
DOI: 10.1186/s12881-016-0267-5
call_split See protocol

[…] 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 […]

library_books

Exome Sequencing of an Adult Pituitary Atypical Teratoid Rhabdoid Tumor

2015
PMCID: 4617150
PMID: 26557502
DOI: 10.3389/fonc.2015.00236

[…] unction. Nineteen of these non-synonymous mutations were novel in the COSMIC database. We categorized these 20 mutated genes into four functionally distinct groups based upon wild-type gene function (GeneDistiller 2): Group 1: intracellular transport/cytoskeleton – tubulin and actin dynamics genes; Group 2: stem cell differentiation genes; Group 3: cell metabolism genes; Group 4: cytotoxic resista […]

Citations

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

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