Services
Discovery Genomics

Discovery
Genomics

Delivering research genomics and data analysis at scale
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High throughput, competitively priced whole genome sequencing services.

Clinically accredited population-scale genomic sequencing

Our genomics facility is ISO15189 accredited

Award-winning variant calling pipeline

Our genome analytics pipeline was awarded the highest SNP precision in the precisionFDA Truth Challenge in 2016*

Custom bioinformatics services

Access our team of bioinformatic experts and our proprietary software solutions to accelerate your genomic analyses

Cohort visualisation
and data management platform

Integrate genomic and phenomic data on VECTIS – our state-of-the art platform for securely analysing, managing and sharing large-scale genomic datasets

Features

Fast turnaround

Turnaround time 6-8 weeks from sample acceptance to data delivery

Flexible and customisable service

Benefit from our expert consultant service to design your project and select the services best suited to your project needs

Consistent and comprehensive coverage

At 40x mean coverage, >96% of the genome is covered at >20x depth. WGS covers more than the mappable (annotated) genome, including regulatory regions, noncoding RNAs and every exon of every protein

Population scale capability

The HiSeq X Ten platform, in combination with laboratory automation, is capable of processing tens of thousands of samples a year. Genome.One's computational architecture can manage >1.8 Petabytes (1800 Terabytes) of archival data per year

Secure data transfer and delivery options

Genome.One utilizes the DNAnexus platform for online data delivery. DNAnexus provides clinical-grade security and privacy and is compliant with HIPAA, CLIA, ISO27001, dbGaP and EU Privacy regulations

Structural variation and CNVs

Chromosomal modifications, such as translocations and inversions, can be precisely defined by WGS, often with single-nucleotide precision. Consistent genome-wide coverage provided by WGS also makes it straightforward to call CNVs

Research expertise

Our team of experts is further strengthened by the proven research excellence of the Garvan Institute of Medical Research

*This award is not an endorsement by the U.S. FDA of Genome.One product and services.

Case Studies

Data analytics and management

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

SOLUTION: The Medical Genome Reference Bank

  • 4000 genomes sequenced using HiSeq X Ten 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 customized online data analysis platform.

Data analytics and management

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

SOLUTION: The Medical Genome Reference Bank

  • 4000 genomes sequenced using HiSeq X Ten 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 customized online data analysis platform.

Data analytics and management

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

SOLUTION: The Medical Genome Reference Bank

  • 4000 genomes sequenced using HiSeq X Ten 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 customized online data analysis platform.

Latest Updates

Accelerating genomic discovery: from pharma to farmer
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Advancing health and accelerating discovery with genome sequencing
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