GeneDistiller protocols

GeneDistiller specifications


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


  • Primates
    • Homo sapiens

Publication for GeneDistiller

GeneDistiller IN pipelines

PMCID: 5427524
PMID: 28494813
DOI: 10.1186/s13023-017-0641-1

[…] impact of variants was analyzed by combined annotation dependent depletion (cadd) v.1.3 and dbnsfp support vector machine (svm) v.2.9 algorithms [18, 19]. variant prioritization was performed by genedistiller [20]. 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) […]

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

[…] to homozygous changes within the roh, followed by excluding previously reported polymorphisms (fig. 3).fig. 3, using the ucsc and ensembl genome browsers [14, 15], the omim database [4], and the genedistiller2 software [16], candidate genes were analyzed based on their function, expression, biological pathways, or animal models. genomic dna of the affected patients, their parents, […]

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

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