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GeneMap specifications


Unique identifier OMICS_15189
Name GeneMap
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline GeneMap Team

Publications for GeneMap

GeneMap citations


A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

Clin Genet
PMCID: 5006848
PMID: 26954065
DOI: 10.1111/cge.12773

[…] nt of NGS technologies has accelerated disease‐gene discovery such that (as of January 2016) there are now reported to be 5654 phenotypes for which the genetic basis is known ( For the remaining rare genetic disorders in which the underlying molecular mechanisms have not yet been determined, online tools such as GeneMatcher , GenomeConnect and MyGene2 have been d […]


WEE1 kinase polymorphism as a predictive biomarker for efficacy of platinum gemcitabine doublet chemotherapy in advanced non small cell lung cancer patients

Sci Rep
PMCID: 4460872
PMID: 26057002
DOI: 10.1038/srep11114
call_split See protocol

[…] ead-Chip (Illumina, San Diego, CA, USA) with the following quality-control criteria: genotyping call rate >0.95; MAF >0.05; and GenCall score >0.2. The concordance among replicates was >99.9% and the GeneMap software was used to analyze the data and prepare reports.Linkage disequilibrium was analyzed in Haploview Software (Broad Institute of Harvard and Massachusetts Institute of Technology, Cambr […]


Locus heterogeneity disease genes encode proteins with high interconnectivity in the human protein interaction network

Front Genet
PMCID: 4260505
PMID: 25538735
DOI: 10.3389/fgene.2014.00434

[…] Disease genes were parsed from the OMIM database genemap (03/02/2014 update; ) and filtered according to ‘confirmed’ genes (observed in at least two laboratories). Disease genes that had no disease annotation in the “disorder” field of the genemap w […]


Analysis of Stop Gain and Frameshift Variants in Human Innate Immunity Genes

PLoS Comput Biol
PMCID: 4110073
PMID: 25058640
DOI: 10.1371/journal.pcbi.1003757

[…] as a learning set for the predictive scores (ROC analyses), we used a catalogue of pathogenic mutations from the Online Mendelian Inheritance in Man database. Only genes with a cytogenetic location (genemap2.txt accessed 18/10/2013 at OMIM: and with a gene status of confirmed or provisional were kept. For each gene with an associated OMIM number, all allelic variants with a “live” s […]


Isolation and Characterization of Novel Microsatellite Markers for Yellow Perch (Perca flavescens)

Int J Mol Sci
PMCID: 2662453
PMID: 19333432
DOI: 10.3390/ijms10010018

[…] For a certain locus, the allele size range (S) was directly obtained from the Genemap® 4.0 software. The number of alleles (A) and their frequency (F), the observed heterozygosity (Ho) and the expected heterozygosity (He) were calculated using the computer program POPGENE 32. T […]


Phylogenomic analysis of vertebrate thrombospondins reveals fish specific paralogues, ancestral gene relationships and a tetrapod innovation

BMC Evol Biol
PMCID: 1464143
PMID: 16620379
DOI: 10.1186/1471-2148-6-33
call_split See protocol

[…] Bank proteins and by viewing of genome-predicted proteins on the genome contigs at UCSC Genome Bioinformatics. In the case of D. rerio, initial identification of gene neighbors was made from the NCBI Genemap Table of the 2004 Zv4 assembly. Gene neighbors were re-confirmed on the contigs of the 2005 scaffold assembly Zv5 at Ensembl (EBI) []. For identification of parologous TSP-encoding regions in […]


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GeneMap institution(s)
Sanger Centre, Hinxton Hall, Hinxton, Cambridge, UK; Boguski, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA; Généthon, CNRS URA 1922, Evry, France; Genoscope Centre National de Sequencage, Evry, France; Department of Genetics, Stanford Human Genome Center, Stanford University School of Medicine, Stanford, CA, USA; European Molecular Biology Laboratory Outstation, Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology Center for Genome Research, Cambridge, MA, USA; Laboratory of Statistical Genetics, Chinakefeller University, New York, NY, USA; Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Windmill Road, Oxford, UK; Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, MD, USA; Centre de Recherche du Centre Hospitalier de l’Université Laval, Ste-Foy, QC, Canada; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA; Department of Biomathematics, University of California, Los Angeles School of Medicine, Los Angeles, CA, USA; Research Genetics, Huntsville, AL, USA; Genexpress, CNRS UPR 420, Villejuif, France; Kazusa DNA Research Institute, Kisarazu, Japan; Department of Pharmacology and Molecular Biology Program, University of Colorado Health Sciences Center, Denver, CO, USA; Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Center for Genome Research, Cambridge, MA, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, USA; Montreal General Hospital Research Institute, McGill University, Montreal, Canada
GeneMap funding source(s)
This work was supported by the Wellcome Trust to the Sanger Centre and the Wellcome Trust Centre for Human Genetics, Oxford, the NIH to the Whitehead Institute for Biomedical Research and Stanford Human Genome Center and the European Union (grant BMH4-CT95-1565).

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