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Genoinseq considers strategic to develop new products to improve services and applications to clients.

GenoinVar

GenoinVar is an end-to-end solution from blood sample to exome sequencing and variant analysis to accelerate the discovery of causal genetic variants. This solution was developed in the framework of the In2Genome project, a multidisciplinary project to integrate whole exome sequencing in clinical practice routine.

GenoinVar involves whole exome sequencing of extracted DNA on the Illumina NextSeq platform and variant analysis thought ExomeLoupe(link), an intuitive and user-friendly Windows software for variant prioritization and interpretation.

genoinvar

Main features:

  • Done under a certified environment (ISO 9001).
  • Great efficiency in the internal pipeline.
  • Reduction in time to results.
  • Security of the genetic data in all steps.
  • Support from a multidisciplinary team of experts.

Under this end-to-end solution we tested molecular diagnosed patients within the In2Genome project and successfully identified the previously reported variants. GenoinVar represents a true end solution for identification of causal variants in clinical or research contexts.

ExomeLoupe

ExomeLoupe is an intuitive and user-friendly Windows platform to help researchers identify causal variants in a secure environment. The platform was developed in the framework of the In2Genome project, a multidisciplinary project to integrate whole exome sequencing in clinical practice routine.  

ExomeLoupe

ExomeLoupe displays the variants and most relevant annotations according to queries defined by the user in an informative and concise manner together with a colour code making the analysis more intuitive. The user can select the variants of interest by gene, HPO term or disease; genomic position; clinical significance based on ClinVar; population frequency; and/or predictive effect according to different tools. ExomeLoupe works on encrypted data, also enabling file storage and sharing in a protected manner according to the new European General Data Protection Regulation.


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