Superlink-Online SNP specifications

Information


Unique identifier OMICS_09409
Name Superlink-Online SNP
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Computer skills Advanced
Stability Stable
Maintained Yes

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Versioning


No version available

Maintainer


  • person_outline Omer Weissbrod

Information


Unique identifier OMICS_09409
Name Superlink-Online SNP
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

Maintainer


  • person_outline Omer Weissbrod

Publications for Superlink-Online SNP

Superlink-Online SNP citations

 (2)
library_books

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro renal syndrome

2017
PMCID: 5837213
PMID: 28334855
DOI: 10.1093/brain/awx013

[…] linic.org/genetics/Online Mendelian Inheritance in Man (OMIM): http://www.omim.org/Biotechnology Information GenBank: http://www.ncbi.nlm.nih.gov/HomozygosityMapper: http://www.homozygositymapper.org/Superlink-Online SNP: http://cbl-hap.cs.technion.ac.il/superlink-snp/1000 genomes project: http://www.1000genomes.org/PolyPhen-2: http://genetics.bwh.harvard.edu/pph2/ExAC Browse: http://exac.broadins […]

library_books

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

2016
BMC Med Genet
PMCID: 4967317
PMID: 27475985
DOI: 10.1186/s12881-016-0314-2

[…] ion of 150 DNA samples of unrelated, ethnically matched control individuals was done by DHPLC as previously described [].Multipoint LOD score for the pedigree at the shared locus was calculated using SUPERLINK ONLINE SNP 1.1 (http://cbl-hap.cs.technion.ac.il/superlink-snp/index.php), assuming an autosomal recessive mode of inheritance with penetrance of 0.99 and disease mutant gene frequency of 0. […]

Superlink-Online SNP institution(s)
Department of Computer Science, Technion-Israel Institute of Technology, Haifa, Israel; Department of Computer Science, University of Texas at Austin, Austin, TX, USA; Donald Bren School of Information and Computer Sciences, UC Irvine, CA, USA; Department of Computer Science, University of Ottawa, Ottawa, Canada; The Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Haifa, Israel; Research and Development Center, The Galilee Society, Shefa-Amr, Israel; Holy Family Hospital, Nazareth, Israel; The Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel; Department of Statistics, University of Washington, Seattle, WA, USA
Superlink-Online SNP funding source(s)
This work was supported by the National Institutes of Health [5R01HG004175-03], the Israeli Science Foundation and the Israeli Ministry of Science and Technology [3-8095].

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