Last month I had a chance to meet Fiona Nielsen, CEO of Repositive, when she was visiting San Francisco for the BlackBox Connect program. I took this opportunity to learn more about Repositive, the platform the company has built, its intended application, and why data sharing is so important. This blog addresses genomic data questions related to data sharing, challenges encountered with analysis and sharing platforms, and what Repositive is focusing on to mitigate these issues.
The following summarizes questions and answers from my dialogue with Fiona Nielsen.
EB:What are some of the biggest challenges when it comes to working with genomics data both in the research and the clinical setting, and what are suggested solutions to address these challenges? What are the promises and challenges of sharing clinical and research genomics data?
FN: All research in a data-intensive science is challenging and hard work. There are high demands put on research data management and efficient analysis tools. In addition, within genomics linked to studying human genetic diseases, you have to deal with the extra Continue reading →
This year’s Bio-IT conference – with theme Big Data – was clearly marked by the presence of clinical genetics: its data sharing, analysis, and interpretation challenges echoed throughout the many talks (and exhibit) whether it was Heidi Rhem’s opening plenary session or George Church’s genomics breakfast session, demonstrating that routine sequencing is within reach. Undoubtedly, there have been great developments in the software space in the past years, but scaling for massive genomics data still requires work! Interestingly, overlapping with Bio-IT 2016, the 13th International Congress of Human Genetics held in Kyoto further exemplified what was communicated Continue reading →
Lab7 Systems Enterprise Platform Product Roadmapping and Feature Definition
In this series of “Customer Spotlight” blog posts, we profile some of our valued customer companies to give our readers a sense of what specific projects we are doing to advance their goals towards building solutions that are embraced by their customers and the scientific community.
This month we’re focusing on Lab7 Systems, a leader in developing an enterprise science platform (ESP) for the management of next-generation genome sequencing (NGS) samples, data, and workflows. Their comprehensive sample-to-answer data management software is designed for the researcher and the clinician: besides enabling sample and genomic workflow management, there is an established need to visualize and annotate identified variants with clinically relevant information, and to allow creating sharable, actionable reports achieved via a configurable Analysis Pipeline Manager. Lab7’s ESP platform is built with a vision to reduce the level of
hands-on data management by lab technicians, research scientists, bioinformaticians, and IT teams who are in many instances struggling with the massive amounts of next generation sequencing data that are being generated and processed. As such, Lab7’s Continue reading →