HomozygosityMapper statistics

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Associated diseases

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HomozygosityMapper specifications


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

Publication for HomozygosityMapper

HomozygosityMapper in publications

PMCID: 5002269
PMID: 27523608
DOI: 10.1016/j.cell.2016.07.019

[…] was carried out using the affymetrix 250k snp microarray with dna from the three affected patients (v:2, iv:3 and iv:4). homozygous regions were identified in affected patients using the program homozygositymapper (http://www.homozygositymapper.org/) () and further analyzed to confirm or refute linkage by typing microsatellite markers in all family members from whom dna was available. direct […]

PMCID: 4631108
PMID: 26104215
DOI: 10.1186/s12881-015-0183-0

[…] (cnv) analysis was performed using dchip software [, ]. for atm02, karyostudio program from illumina inc. was used to exclude cytogenetic abnormalities, and hbd mapping was performed by using the homozygositymapper []., for rqmr10 and anmr51, direct sanger sequencing of vps13b was performed, based on homozygosity mapping results, for all 62 exons and splice junctions of vps13b. pcr primers […]

PMCID: 4120243
PMID: 24997988
DOI: 10.1038/ng.3031

[…] genechip scanner 3000-7g. the image data was processed with the affymetrix genotyping console (gtc v4.1) for determining snp call and copy-number variation. homozygosity mapping was performed using homozygositymapper default parameters (see urls)., exome capture was performed at the genoscope centre national de génotypage (cng, evry) on 8 µg of dna sample from the affected proband using […]

PMCID: 3495048
PMID: 22973972
DOI: 10.1186/1471-2350-13-80

[…] resulting in ~95% recovery at >10x coverage. gatk software [] was used for variant identification. these variants were used to identify identity-by-descent blocks with the online software homozygositymapper [], set to analysis of blocks containing 200 markers and only flag blocks > 100 markers in a row. variants were annotated using seattleseq ( […]

PMCID: 3096909
PMID: 21513506
DOI: 10.1186/1471-2350-12-56

[…] the proband., whole genome scan was performed by using genechip mapping 500k array nspi chip (affymetrix) for four affected and 2 unaffected family members and the data was analyzed using dchip and homozygositymapper software for homozygosity mapping and copy number analysis [,]. after fine mapping the region in complete family data was analyzed with merlin for two-point and multipoint lod […]

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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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