Flex应用专题 | 解锁蛋白质谱前处理自动化的无限潜能
Check the DetailsKaja Wasik's mission is to make you want to know your own genomic DNA sequence. “Genomic data keeps pace with the development of the world,” Kaja explained, and current technological developments have normalized genetic testing in prenatal care and disease diagnosis. However, who exactly has access to genomic data and how is it used?
However, exactly who can access genomic data and how it is used raises questions about medicine, ethicsandDebate among the business community. Users of DNA data often don't even have the ability to use it themselves. Kaja is working to change that. Giving people access to their own DNA sequence "empowers people," she said.
Kaja (Co-Founder, Chief Strategy Officer), her co-founders Tomaz Berisa (Co-Founder, CTO) and Joe Pickrell (Co-Founder, CEO) at their startupGencove has developed a new sequencing platform. Gencove prepares genomic content from participants’ saliva for genome sequencing.
They improved other genome sequencing services in three aspects:
1 – Use low-coverage whole-genome sequencing instead of SNP arrays (more on this below).
2 – Provide information about participants’ oral microbiota.
3 – Provides open API access to all genomic data.
For $60, participants can get these and a standard set of ancestry and health-related data (compared to $79 or $199 for Ancestry.com or 23andMe, which also offer data based on Ancestry information from DNA sequencing).
One of Gencove's innovations lies in its interface design. In addition to being easy to use and understand, the platform allows users to upload and analyze genomic data in a variety of formats. This provides users the convenience of comparing their own data obtained through other companies with Gencove’s data. What's even more unique is that people who hold genomic data do not need to use Gencove's sequencing service. They can upload and analyze the data through its API to obtain more information.
For researchers interested in studying unique relationships between genotypes, or DNA sequences, and traits, the free and open source API is a Not a small benefit. Take the search for genes related to rose scent, for example. Researchers previously either had to build their own research projects from scratch or work with genome sequencing companies and spend time and money licensing the data. Now, researchers can use the genomic data that participants have agreed to provide (Kaja stresses that every research project requires user consent to use their de-identified sequences) to build specific algorithms and ask various research questions. These questions can range from simple studies like smell detection to more in-depth studies such as searching for rare genetic diseases.
Kaja and the Gencove team have one core goal when it comes to researching genetic diseases: finding a better understanding. While only a handful of diseases are genetically linked, the power of Gencove is in bringing together a variety of genomic data into a single platform, giving researchers a vast array of sequences to study. "We think these large cohort studies will help us find those very rare mutations, for example, rare cases that are one in a million," Kaja said. "We hope that as the data sets continue to grow, we will be able to find those cases. ”
The technology used by Gencove helps find these rare genetic mutations: They use low-coverage whole-genome sequencing. This technology opens up parts of the genome that have not been studied by other genomics companies through SNP arrays. Low-coverage whole-genome sequencing means Gencove randomly sequenced 10-20% of a participant's genome and extrapolated the rest using sequences in existing databases. Through genetic inference (using algorithms to find the unread DNA sequences most likely related to the sequenced region), they increased the power and resolution of low-coverage WGS and improved prediction accuracy, providing information about the entire genome with an extremely high probability of accuracy. information.
Gencove is also working to increase genome representation in its database, which will further enrich their data. “Many genomic studies have been conducted in Caucasian Europeans, which lack diversity,” Kaja said. One of Gencove's partners is an Indian sequencing company: "Today, we have the most accurate reference genome for an Indian population," she said. Increasing the diversity of the database may help uncover more genetic diseases that are more common in non-European genetic backgrounds.
Kaja welcomes partnerships with those who want to collect large populations and sequence them from scratch, whether they are individuals, academics, startups, or pharmaceutical companies. These projects not only answer specific research questions but also add growing amounts of data to provide resources for projects that may involve new algorithms looking for correlations.
Gencove’s automated process starts with the OT-1 S. The OT-1 S aspirates saliva samples from saliva tubes and transfers them to a 96-well plate for further processing. The workflow also used Formulatrix Mantis for plate filling and Agilent Bravo for parallel NGS library preparation.
For Kaja, the appeal of the Opentrons OT-1 is its affordability. “The cost of laboratory automation is staggering,” she said. “A robot that could do what OT-1 did, I was told would cost $200,000 to $350,000. As a startup with only three employees, I couldn’t invest in something that expensive. Opentrons gives us the accuracy and Predictable results at a very affordable price. ”
At the New York Genome Center (before Gencove began operations), Kaja used a manual pipette to perform low-coverage sequencing experiments on friend and family volunteers. It is easy to make mistakes during manual operation. "I tested my husband's father and it showed he was not related to my husband, and my Nigerian friend's ancestors were thought to be Nordic - so I knew immediately I had made a mistake. It all made me realize we had to Take the human element out of the process! "This has never happened since the protocol was fully developed and automated.
Gencove found the flexibility of the Opentrons platform to be critical. Other platforms are more rigid, and Kaja found it difficult to automate the saliva extraction protocol, which is critical for sample integrity. “Opentrons can help you do everything you want to do!” Kaja said. With a few programming changes, Gencove was able to manipulate sample handling and movement exactly as their experimental workflow required.
Kaja is a big fan of Opentrons and has been encouraging friends at other startups to try the cost-effective robots Gencove is using. The integration of Opentrons and Gencove technologies is an important step toward accessible open source biotechnology at the core of both companies' foundations. Kaja says: “We absolutely love Opentrons!”
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