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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 citations


Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract

PMCID: 5938035
PMID: 29700284
DOI: 10.1038/s12276-018-0079-0

[…] 0% (, Table ). Owing to consanguinity between the parents, an autosomal-recessive inheritance pattern was considered. Homozygosity mapping analysis was performed based on the proband’s VCF file using HomozygosityMapper. The results showed that a total of 15 loci of homozygosity were >3 Mb. After employing a step-by-step filtering strategy (, Fig. ), only two homozygous variants remained: c.331C>T […]


GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy

PMCID: 5817843
PMID: 29468182
DOI: 10.1002/acn3.522

[…] also 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 HomozygosityMapper to identify shared regions of homozygosity in affected patients.This identified 3 shared homozygous regions present in both siblings (Fig. B). With the hypothesis that the disease‐c […]


A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Biomed Res Int
PMCID: 5651094
PMID: 29119105
DOI: 10.1155/2017/3470234

[…] http://evs.gs.washington.edu/EVS/; Online Mendelian Inheritance in Man (OMIM): http://www.omim.org/; Biotechnology Information GenBank: https://www.ncbi.nlm.nih.gov/; Homozygosity-Mapper: http://www.homozygositymapper.org/; 1000 genomes project: http://www.1000genomes.org/; PolyPhen-2: http://genetics.bwh.harvard.edu/pph2/; ExAC Browse: http://exac.broadinstitute.org/. […]


Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations

Sci Rep
PMCID: 5567291
PMID: 28831107
DOI: 10.1038/s41598-017-09276-0

[…] Due to consanguinity between the parents, an autosomal recessive inheritance pattern was considered first. Homozygosity mapping analysis was performed based on the proband’s SNP genotype files using HomozygosityMapper. The results showed that a total of 12 loci of homozygosity were larger than 2 Mb (Fig. ). After employing a step-by-step filtering strategy (Fig. ), there are three candidate varia […]


Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

Sci Rep
PMCID: 5473861
PMID: 28623311
DOI: 10.1038/s41598-017-03536-9

[…] ction rate in both cases. The detailed variant filtration and exome data analysis strategies are presented in Supplementary Methods.We also performed homozygosity mapping in exome data, utilizing the HomozygosityMapper tool (available at www.homozygositymapper.org  ). Only the variants in regions covered at 50x depth or more were included in this analysis and minimal block sizes was set at 20 vari […]


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

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

[…] n.edu/EVS/Marshfield Maps: http://research.marshfieldclinic.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. […]


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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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