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TrueSight specifications


Unique identifier OMICS_01258
Name TrueSight
Software type Package/Module
Interface Command line interface
Restrictions to use None
Input format FASTQ
Output format BAM, SAM
Operating system Unix/Linux
License GNU General Public License version 3.0
Computer skills Advanced
Version 0.06
Stability No
Perl, GCC with Standard C++ Library, GNU make, samtools
Source code URL
Maintained No


No version available


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Publication for TrueSight

TrueSight citations


Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

PMCID: 5852105
PMID: 29568272
DOI: 10.3389/fphys.2018.00177

[…] from peripheral macrophages by standard procedures using gentra puregene blood kit (qiagen, hilden, germany). a targeted exome panel sequencing was performed by next generation sequencing using the truesight one sequencing panel (illumina, san diego, ca, usa). sequence data were compared with the reference sequence of the human trpm4 gene (mim# 606936; refseq nm_017636.3; ensembl gene […]


A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

PMCID: 5902401
PMID: 29274115
DOI: 10.1002/mgg3.358

[…] second aunt (ii‐2) was also affected. family anamnesis supports an inherited genetic etiology., we obtained written consent of the probands to this study and genotyped the index patient using the truesight cardio sequencing kit (illumina, san diego, usa; 174 genes). the identified variants including des‐p.q165_a174delinsas were listed in table . the genetic etiology of cardiomyopathies […]


A new variant in PHKA2 is associated with glycogen storage disease type IXa

PMCID: 5233919
PMID: 28116244
DOI: 10.1016/j.ymgmr.2017.01.003

[…] the family, genetic testing of the genes associated with gsd vi and gsd ix: pygl, phka1, phka2, phkb and phkg2 was arranged., after dna extraction the sample was analyzed by ngs using the illumina truesight one (tso) assay. library preparation and exome enrichment steps were performed according to manufacturer's workflow and sequenced in a miseq system. the tso assay covers 12 mb of the human […]


Shared HLA Class I and II Alleles and Clonally Restricted Public and Private Brain Infiltrating αβ T Cells in a Cohort of Rasmussen Encephalitis Surgery Patients

PMCID: 5165278
PMID: 28066418
DOI: 10.3389/fimmu.2016.00608

[…] and tissue kit (qiagen, valencia, ca, usa). access to a database of tcr β cdr3 sequences from anonymized healthy control blood samples was provided by adaptive biotechnologies (seattle, wa, usa)., a truesight® hla sequencing panel (illumina, san diego, ca, usa) was used to obtain in-depth sequence information about the eight major hla genes (hla-a, b, c, drpa1, drpb1, drqa1, drqb1, drb1/3/4/5) […]


Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis

PMCID: 4912540
PMID: 27317552
DOI: 10.1186/s40348-016-0050-x

[…] conducted in our research laboratory which obviously takes much longer. however, if this novel method is established in the clinical routine, mendeliome sequencing is feasible within 72 h (illumina truesight one manual 15046433, 2013). for cases of pdh deficiency in particular, mendeliome sequencing is quicker than the previously used enzymatic assays. our case of pyruvate dehydrogenase […]

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TrueSight institution(s)
Department of Bioengineering, University of Illinois at Urbana-Champaign, IL, USA; Institute for Genomic Biology, University of Illinois at Urbana-Champaign, IL, USA; Department of Entomology, University of Illinois at Urbana-Champaign, IL, USA; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, GA, USA; School of Computational Science & Engineering, Georgia Institute of Technology, Atlanta, GA, USA; Department of Molecular and Biological Physics, Moscow Institute for Physics and Technology, Dolgoprudny, Moscow Region, Russia; Neuroscience Program, University of Illinois at Urbana-Champaign, IL, USA
TrueSight funding source(s)
Supported by National Science Foundation, National Institutes of Health [1R21HG006464, 1DP1OD006416 and 5R01HG00783].

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