Protocols

KinSNP specifications

Information


Unique identifier OMICS_24878
Name KinSNP
Software type Application/Script
Interface Command line interface
Restrictions to use None
Input data Some Affymetrix files.
Output data Some coloured, linked Excel files.
Output format XLS
Operating system Unix/Linux
Computer skills Advanced
Maintained No

Versioning


No version available

Maintainer


This tool is not available anymore.

Publication for KinSNP

KinSNP citation

call_split

Congenital myopathy is caused by mutation of HACD1

2013
Hum Mol Genet
PMCID: 3842179
PMID: 23933735
DOI: 10.1093/hmg/ddt380
call_split See protocol

[…] Genotyping was performed using Affymetrix (CA, USA) GeneChip Human SNP5 array. We determined the genotype calls by using Affymetrix GeneChip Genotyping Console Analysis Software. KinSNP () software was used to automatically search the microarray results for homozygous regions consistent with linkage.Whole-exome sequencing was performed using NimbleGen v2 exome capture followed […]

KinSNP institution(s)
Department of Computer Science, Ben-Gurion University of the Negev, Beer-Sheva, Israel; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel; Department of Developmental Genetics and Virology, Ben-Gurion University of the Negev, Beer-Sheva, Israel; National Institute of Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer-Sheva, Israel
KinSNP funding source(s)
Supported by a research grant from the National Institute for Biotechnology in the Negev.

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