Protocols

AgileVariantMapper specifications

Information


Unique identifier OMICS_00122
Name AgileVariantMapper
Software type Package/Module
Interface Graphical user interface
Restrictions to use None
Operating system Windows
Programming languages Visual Basic
Computer skills Medium
Stability Stable
Maintained Yes

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Versioning


No version available

Maintainer


  • person_outline Ian M. Carr

Publication for AgileVariantMapper

AgileVariantMapper citations

 (2)
library_books

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

2015
PMCID: 4707028
PMID: 26788539
DOI: 10.1002/mgg3.181

[…] Regions of AOH (autozygosity) were determined by a transformation of full SNP variant calls from exome sequencing with AgileVariantMapper software (Carr et al. ). Minimum read depth was set at 5, and the heterozygosity cutoff was 25% of reads. […]

call_split

An Amino Acid Deletion in SZT2 in a Family with Non Syndromic Intellectual Disability

2013
PLoS One
PMCID: 3855772
PMID: 24324832
DOI: 10.1371/journal.pone.0082810
call_split See protocol

[…] 2,481 whole exomes. Genotypes derived from whole exome data were utilized to identify homozygous runs as previously described [], where the authors developed two computer programs, AgileGenotyper and AgileVariantMapper that can identify autozygous regions from an individual's exome sequence data. The two programs differ in that AgileVariantMapper uses the genotypes of all positions found ab initio […]

AgileVariantMapper institution(s)
School of Medicine, University of Leeds, Leeds, UK

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