Next generation sequencing has led to an explosion of genomic data associated with every conceivable physiological state. It has become a standard practice to associate variants linked to a physiological effect (disease conditions, drug effects, knock-outs etc). However, the meaning (or phenotype change) resulting from the genetic change remains obscured. Variant annotation and analysis attempts to bridge the gap between genotype and the phenotype. Typically, it involves integration of experimentally validated data and computational predictions.

Variant Annotation Platform (VAP) is a comprehensive variant annotation and analysis platform that integrates curated epigenetics data and combines it with high-confidence predictions. The platform incorporates both data from databases and annotation, as well as prediction tools. VAP is Integrated with our manually curated biomarkers database to bridge the gap between genotype and phenotype (GOBIOM is used by many companies and institutes worldwide including FDA).

We have developed novel ensemble algorithms for non-coding variant annotation, that is unique for a variant annotation platform.

Features

  • Meta collection of more than 40 publicly available variant annotation databases.
  • Data retrieval by genomic location, gene/protein names and variant identifiers from all major databases.
  • Non-coding variant annotation and prediction available.
  • Epigenetic data and prediction algorithms available for the entire genome and not just coding variants.
  • Variant effect on protein/gene function both available.
  • Biological interpretation and hypothesis generation by our PhD level scientists.
  • Limited incorporation of 3D-genome features.

We have successfully used this platform to provide new MOA of SNPs affecting marketed drug's response, new target identification for ADC projects and immuno-oncology analysis. All variants spanning coding/non-coding and other types are annotated and many are linked with appropriate biomarkers for drug response or disease progression.

To explore our services, write to us at info@excelra.com

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