Geneticist Assistant statistics

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Citations per year

Number of citations per year for the bioinformatics software tool Geneticist Assistant
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Tool usage distribution map

This map represents all the scientific publications referring to Geneticist Assistant per scientific context
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Protocols

Geneticist Assistant specifications

Information


Unique identifier OMICS_07007
Name Geneticist Assistant
Software type Toolkit/Suite
Interface Graphical user interface
Restrictions to use License purchase required
Biological technology Illumina, Life Technologies, Roche
Operating system Mac OS, Windows
License Commercial
Computer skills Medium
Stability Stable
Free trial Yes
Maintained Yes

Versioning


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Geneticist Assistant citations

 (3)
library_books

Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease

2018
PMCID: 5838416
PMID: 29527510
DOI: 10.5527/wjn.v7.i2.65

[…] errors if they exhibited strong strand bias (< 0.10), low depth of coverage (< 10), low-quality score (< 30) or low average quality (< 2.0). The functional analysis of variants was performed by using Geneticist Assistant software (SoftGenetics, United States). This software used combined computational prediction methods (SIFT, Polyphen2, LRT, MutationTaster, ANNOVAR, FATHMM, CADD and Mutation Asse […]

call_split

Application of targeted multi gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype genotype variability

2015
BMC Med Genet
PMCID: 4578331
PMID: 26392352
DOI: 10.1186/s12881-015-0224-8
call_split See protocol

[…] uman genome as a reference, and followed the Association of Clinical Genetics Science (ACGS) Practice Guidelines []. Viewing of variants and recording of classification evidence was facilitated using Geneticist Assistant software (Soft Genetics). Copy number enumeration was performed for the 17p11.2 region using the CONTRA tool as a component of the analysis pipeline []. This was necessary to ensu […]

library_books

Next generation sequencing based genome diagnostics across clinical genetics centers: implementation choices and their effects

2015
Eur J Hum Genet
PMCID: 4538197
PMID: 25626705
DOI: 10.1038/ejhg.2014.279

[…] ailable data analysis packages. We tested the capacities of three off-the-shelf software packages – Bench Lab NGS (Cartagenia; www.cartagenia.com), Variant Analysis (Ingenuity; www.ingenuity.com) and Geneticist Assistant (Softgenetics/BioKé www.softgenetics.com) – to consistently analyze data and filter variants. All packages consistently identified the 8 causal variants in all data sets, but the […]


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