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GeneInsight Suite specifications


Unique identifier OMICS_19582
Name GeneInsight Suite
Software type Toolkit/Suite
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability No
Free trial Yes
Registration required Yes
Maintained No


  • GeneInsight Clinic
  • GeneInsight Lab


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Publication for GeneInsight Suite

GeneInsight Suite citations


Infrastructure for Personalized Medicine at Partners HealthCare

PMCID: 4810392
PMID: 26927187
DOI: 10.3390/jpm6010013

[…] r and custom scripts for visualization. we are also in the process of implementing beelin/autoconvert, plink, and custom software for high-throughput genotyping and annotation of illumina data., the geneinsight suite of it tools has been developed by the ppm clinical it team, to address some of the most critical challenges to enabling broad clinical utilization of genomic testing, a key step […]


An eMERGE Clinical Center at Partners Personalized Medicine

PMCID: 4810384
PMID: 26805891
DOI: 10.3390/jpm6010005

[…] best practices in genomic medicine [], and led a number of initiatives and policy statements around return of genomic results in both clinical and research venues [,,,,]., ppm has also developed the geneinsight suite, an it platform for the management and clinical communication of genetic results (see aronson et al. []). partners healthcare has used the geneinsight suite to generate clinical […]


Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

PMCID: 4810383
PMID: 26805890
DOI: 10.3390/jpm6010004

[…] genetic knowledge., our institution is in the process of transitioning from a custom built ehr to epic (epic systems, verona, wi, usa). we have integrated an external application we created, geneinsight clinic [], with both of these ehrs to provide genetics support for our clinicians (). geneinsight clinic provides clinicians access to easily view genetic test results […]


A systematic approach to the reporting of medically relevant findings from whole genome sequencing

BMC Med Genet
PMCID: 4342199
PMID: 25714468
DOI: 10.1186/s12881-014-0134-1

[…] suite []. approved variant classifications with supporting evidence descriptions are submitted to the clinvar database to support community knowledge sharing []. grs are drafted and finalized using geneinsight lab and electronically delivered to physicians participating in the medseq project via geneinsight clinic. changes to variant classification in geneinsight lab resulting from new data […]


A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information

PMCID: 4234046
PMID: 25411644
DOI: 10.3390/jpm4020176

[…] to illustrate, over a seven year period, the partners healthcare center for personalized genetic medicine’s laboratory for molecular medicine genome variant knowledge base, managed by the geneinsight suite, reclassified nearly 15% of their original classifications, with almost one third of those initially being vus []. as such, genome variant knowledge bases will play an important […]


Communicating new knowledge on previously reported genetic variants

Genet Med
PMCID: 3841913
PMID: 22481129
DOI: 10.1038/gim.2012.19

[…] laboratory for molecular medicine (lmm) currently manages information on 10,155 unique variants known to exist in the 219 genes covered by its 183 active clinically orderable tests. the lmm uses geneinsight lab to manage its knowledge base. when a test is first established, the assayed genes are defined in the system, which loads reference sequences from national center for biotechnology […]

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GeneInsight Suite institution(s)
Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MA, USA; Partners HealthCare Information Systems Department, Cambridge, MA, USA; Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Cambridge, MA, USA; Departments of Pathology, Brigham and Women’s Hospital, Massachusetts General Hospital and Harvard Medical School, Boston, MA USA; Pathology Department, University of Utah and ARUP Laboratories, Salt Lake City, USA
GeneInsight Suite funding source(s)
Supported, in part, by grant number RC1LM010526 from the National Library of Medicine and the National Institutes of Health.

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