Case studies

We have helped over 500 researchers worldwide achieve their project goals.

Case studies

We have helped over 500 researchers worldwide achieve their project goals.

Cohort sequencing

CHALLENGE: Generate an analysis-ready whole genome sequencing dataset to be used for the identification of new drug targets in the treatment of gout.

SOLUTION: Cohort sequencing, data analytics and provision of data

  • 1,250 genomes sequenced using HiSeq X technology under clinically accredited conditions (ISO 15189)

  • Data aligned and variants called using our FDA award winning pipeline

  • Dataset made available via the DNAnexus platform, which is compliant with HIPAA, CLIA, ISO 27001, dbGaP and EU Privacy regulations

Precision medicine

CHALLENGE: Stratify a cohort of cancer patients in terms of likely response to novel cancer therapies.

SOLUTION: Whole genome sequencing used in a clinical trial setting to drive precision medicine

  • Whole genome sequencing was performed on germline and tumour samples, using HiSeq X technology under clinically accredited conditions (ISO 15189)

  • Dataset made available via the DNAnexus platform, which is compliant with HIPAA, CLIA, ISO 27001, dbGaP and EU Privacy regulations

  • Performed germline vs tumour genome data analysis

  • Researchers were able to stratify patients into treatment groups using their genomic profile

Data analytics and management

CHALLENGE: Integrate whole genome sequencing data and clinical information from 4,000 individuals and package the dataset into an online data analysis platform.

SOLUTION: The Medical Genome Reference Bank

  • 4,000 genomes sequenced using HiSeq X technology under clinically accredited conditions (ISO 15189)

  • Data aligned and variants called using our FDA award winning pipeline

  • Analysis-ready variant data integrated with clinical records and made available on a customised online data analysis platform