Blog

Gencove Explorer provides robust support for several data export methods, making use of the Explorer SDK to facilitate seamless and efficient data transfer across various environments and storage solutions. In this blog, we’ll explore various methods of exporting data from Gencove's systems, covering how to generate pre-signed URLs for sample deliverables, and how to export data deliverables to AWS S3, Microsoft Azure, and Google Cloud Storage (GCP).

Investigating the genetic basis of complex human traits is a pivotal endeavor in modern biomedical research. In a recent study, researchers at the Weizmann Institute of Science delved into a deep repository of clinical and genetic data to unravel the genetic associations across a range of disease phenotypes.

Dog research is at a crossroads. Like in humans, genetic tools could revolutionize veterinary care and improve the health and welfare of all dogs, but widely used genetic testing services don’t provide the information needed by researchers to achieve this vision. A collaboration between Gencove, genomic scientists, and dog breeders has developed a new solution that combines high-accuracy genetic testing with comprehensive whole genome genotyping. This dual-purpose product supports breed ancestry analysis, Mendelian disease testing, and large-scale genomics.

Sequencing projects come in many different forms. At Gencove, we’ve seen and supported a broad range of species and sample types. Occasionally, we receive projects that our partner service labs can't support using standard procedures, necessitating bespoke and innovative solutions.

Detecting structural variants in the human genome remains a substantial challenge for most sequencing projects. Most DNA sequencing projects use short-read NGS platforms, making it challenging to accurately resolve long, complex structural mutations. While long-read sequencing platforms are both available and well-suited for structural variant detection, the significant cost of using these platforms has prevented their widespread use.

Effectively we are rapidly approaching a world where sequencing costs per se are irrelevant to companies looking to implement genetic testing at massive scale. The scientific implications of this are fun to consider, but it’s also worth thinking about the overall business implications.

As sequencing costs continue to drop, the upstream (library preparation) and downstream (data analysis & management) pieces of next-generation sequencing are becoming more important. The costs associated with library preparation have remained constant, so finding cost-saving modifications to this step has become increasingly important, especially at Gencove in our mission towards ubiquitous sequencing.

At Gencove, we’ve long talked about Moo-res law, the trend of increasing genotype adoption in the cattle breeding world, with global genotyping in the cattle industry likely to hit 5 million samples annually by mid-decade. The successes of genomic selection are well known, led by the US dairy evaluation’s pioneering efforts over 15 years ago, with adoption following in many cattle breeding programs globally.

As we close the book on 2023, the Gencove team was busier than ever in the pursuit our mission: a healthier and more sustainable civilization through the application of ubiquitous sequencing. Our work with our partners spanned species and populations, today we look back on a few key highlights.

A recent study from the Gencove and Element Biosciences teams has demonstrated the efficacy of low-pass sequencing plus imputation using avidity sequencing compared to sequencing by synthesis.

We recently reported on the release of the novel gnomAD_v3.1.2 HGDP1KG human reference panel for build GRCh38. This new panel consists of a total of 4091 individuals, and we have previously discussed its considerable gains in imputation power when compared to other publicly available human reference panels. We have now made the HGDP1KG panel available for build GRCh37.

The human leukocyte antigen (HLA) locus is a cluster of genes on chromosome 6 of the human genome that play a crucial role in self/non-self recognition in the immune system. Understanding genetic variation at the HLA locus is essential in human genetics; however, accurately genotyping the HLA locus has proven challenging because it is complex and highly polymorphic. Here, we compare these two HLA imputation approaches to learn which path leads to greater accuracy.