GeneScreen statistics

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Citations per year

Number of citations per year for the bioinformatics software tool GeneScreen

Tool usage distribution map

This map represents all the scientific publications referring to GeneScreen per scientific context
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Associated diseases


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GeneScreen specifications


Unique identifier OMICS_10357
Name GeneScreen
Software type Package/Module
Interface Graphical user interface
Restrictions to use None
Operating system Windows
Computer skills Medium
Stability Stable
Net framework
Maintained Yes


No version available


  • person_outline Ian M. Carr

Publication for GeneScreen

GeneScreen citations


HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

PLoS Genet
PMCID: 4168999
PMID: 25232951
DOI: 10.1371/journal.pgen.1004577

[…] PCR amplified products using BigDye terminator chemistry (Applied Biosystems). Primer sequences used to amplify all HEATR2 exons for sequencing are given in . DNA sequence data was analysed using the GeneScreen software . The 23 additional PCD patients sequenced for HEATR2 mutations had no known mutations at the time, and included two patients with cilia aplasia, two with absent inner dynein arms, […]


A Pathogenic Mosaic TP53 Mutation in Two Germ Layers Detected by Next Generation Sequencing

PLoS One
PMCID: 4014518
PMID: 24810334
DOI: 10.1371/journal.pone.0096531

[…] e PCR kit (Life Technologies). Amplicons were sequenced using the BigDye terminator cycle sequencing kit and an ABI 3130 automated sequencer (Applied Biosystems). Sequencing traces were analyzed with GeneScreen ( followed by visual inspection, with reference to the human genome reference sequence, build hg19/GRCh37 ( PCR-amplification and […]

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GeneScreen institution(s)
Division of Molecular & Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, UK
GeneScreen funding source(s)
Cancer Research UK, the Medical Research Council (Project Grant G0700073), BDF Newlife (SG/09-10/07) and the Sir Jules Thorn Charitable Trust (grant 09/JTA)

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