Geneticist Assistant protocols

View Geneticist Assistant computational protocol

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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 Unix/Linux
License Commercial
Computer skills Medium
Stability Stable
Maintained Yes

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Geneticist Assistant in pipeline

2018
PMCID: 5915132
PMID: 29707124
DOI: 10.18632/oncotarget.24770

[…] the analyses were performed on the illumina misequ® and the nextseq system (illumina, ca, usa). after sequencing, mutations in brca1, brca2 and tp53 were identified with the help of nextgene and geneticist assistant softwares. pathogenicity for new mutations that were not found in the database was determined and categorized using prediction tools like sift, aligngvgd, mutation taster., […]


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Geneticist Assistant in publications

 (3)
PMCID: 5838416
PMID: 29527510
DOI: 10.5527/wjn.v7.i2.65

[…] 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 […]

PMCID: 5592712
PMID: 28912962
DOI: 10.1186/s40942-017-0087-6

[…] dna was sequenced in a panel with 132 genes related to retinal dystrophies using the illumina® platform. sequence analysis and variation calling was performed using soft genetics®, nextgene, and geneticist assistant software. the criteria for pathogenicity analysis were established according to the results of prediction programs (polyphen 2, mutation taster and metacore™) and comparison […]

PMCID: 4578331
PMID: 26392352
DOI: 10.1186/s12881-015-0224-8

[…] 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 […]


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