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 has 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 technology and analytics software provide a path to ubiquitous genomic information.
Get a technical guide >
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
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.
