HomozygosityMapper specifications

Information


Unique identifier OMICS_00123
Name HomozygosityMapper
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes

HomozygosityMapper article

HomozygosityMapper citation

2018
PMCID: 5817843

[…] failed to identify any likely pathogenic variants. to narrow the disease locus, we carried out genome wide genotyping on all available family members using the illumina cytosnp12 array, and used homozygositymapper6 to identify shared regions of homozygosity in affected patients., this identified 3 shared homozygous regions present in both siblings (fig. 2b). with the hypothesis […]

HomozygosityMapper institution(s)
Department of Neuropaediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany; NeuroCure Clinical Research Centre, Charité - Universitätsmedizin Berlin, Berlin, Germany; Cologne Center for Genomics (CCG) and Institute for Genetics, Universität zu Köln, Köln, Germany; Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA; Center for Molecular Medicine Cologne (CMMC), Universität zu Köln, Köln, Germany
HomozygosityMapper funding source(s)
Deutsche Forschungsgemeinschaft within the SFB 665 TP A6 ‘Developmental Disorders of the Nervous System’; NeuroCure Cluster of Excellence [Exc 257] at the Charité, Berlin

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