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Population-scale genomic information

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The goal of human genomics is to identify genetic variants in the population that influence phenotypes, such as disease susceptibility or response to medical treatment. Historically, this posed a challenge. The only cost-effective technology for profiling large numbers of individuals has been genotyping arrays, which only measure a small fraction of the genome.

Sequencing-based technologies, which enable more comprehensive profiling of genetic variation, remain too expensive for routine use. Gencove's low-pass sequencing and analysis software provide a path to ubiquitous genomic information.

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The power and discovery capabilities of sequencing

  • Genome-wide association studies
  • New rare genetic variant discovery
  • Population genetic analysis
  • Biobank genomic profiling
  • Pharmacogenomics trials and research
  • Ancestry profiling
  • Diagnostic testing

Human genomics brochure >

How low-pass sequencing works

Products Infographic

1

Library preparation

Our low-pass sequencing library preparation method is optimized for output and cost-efficiency. It’s also automated, scalable, and battle-tested.

2

Low-Pass Whole Genome Sequencing

We sequence a random 10-20% of the genome but at shallower depths (<1x) hence the name low-coverage or low-pass sequencing. We have three options for sequencing your samples: in our lab, our preferred network of service providers, or you may directly upload a FastQ file to the Gencove platform.

3

Imputation and analysis

Using our proprietary algorithms, we compare the sequence to reference panels to complete the genome. Gencove’s products return over 99% accurate variant calls for every sample. We then provide imputed VCF and aligned BAM files plus any additional analysis that you need to complete your project.

We are proud to be trusted by these leading academic institutions, biotechnology, diagnostic, genomics, and pharma companies

Bgi
Boehringer Ingelheim
Broad Institute
Connell
Coriell Institute
GSK
Harvard University
KALLYOPE
Oxford
SEMA4
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