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 […]

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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