Population-scale, genome-wide information

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 (HRD, PRS, NIPT, and more)
Human genomics brochure >

How low-pass sequencing works

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

Our protocols enable a random 10-20% of the genome to be sequenced but at shallower depths (<1x) hence the name low-coverage or low-pass sequencing. We have several options for sequencing your samples: in our lab, our network of service providers, we can help see up an in-house lab or you may directly upload a FastQ file to the Gencove platform.

3

Imputation and analysis

Using our proprietary algorithms, lpWGS data is compared to a haplotype reference panel to complete the genome. Gencove’s platform returns over 99% accurate variant calls for every sample. Gencove's platform delivers standard file formats such as 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 clinical laboratories, pharma companies and service providers.

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Boehringer Ingelheim
Broad Institute
GSK
Harvard University
KALLYOPE
Oxford
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