Widely used in studies on:

  • * Human Genomics
  • * Rare Diseases

 

Lab protocols we can do:

  • * Exome sequencing
  • * Whole genome sequencing
  • * Gene panel sequencing

 

Bioinformatics analysis of:

  • * Variant identification (SNVs, Indels, CNVs)
  • * RD-Connect Genome Phenome Analysis Platform:
  • - Standardized phenotypic information
  • - Genomic information
  • - Analysis tools
  • - Connection to databases
  • - Connection to other RD platforms

 

Contact: