The Need to Address the Ensuing Data Explosion is Imminent

Clearly, the DNA sequencing technology has matured and is continuously being optimized for performance while becoming increasingly affordable, thus opening an era of reliable and foreseeable quality data growth demanding high computational resources and data storage. With the rise of varied applications, be it in cancer research, infectious diseases, and other therapy areas, and with the launch of large initiatives (e.g. The Precision Medicine Initiative (PMI)), the need to address the ensuing data explosion is imminent.

Oncology is the dominant sector that currently benefits from next-generation sequencing followed by applications in inherited and rare disease understanding, infectious disease, the microbiome, and others. It is expected that soon, agriculture will also benefit from the technological developments that currently help propel both biomedical research and the clinical sector. Continue reading

Just Released – Our New NGS Data Analysis & Interpretation Ecosystem Analysis Report

Palo Alto, CA, August 22, 2016 – enlightenbio LLC, today announced the publication of its NGS Data Analysis & Interpretation Ecosystem Analysis Report. This new report details an extensive ecosystem analysis of 25 commercial companies in the NGS data analysis and interpretation space, market trends, unmet needs and challenges. The report is unique, in that it is not a predictive market research report, but rather builds on data gathered from many end-user interviews combined with an extensive ecosystem analysis.

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This comparative ecosystem analysis of key commercial data analysis and interpretation tool providers reveals a range of capabilities that uniquely address both secondary and tertiary sequence data analysis needs. At first glance, the value propositions and communication of capabilities may seem overlapping or similar. However, a deeper analysis clearly uncovers substantial differences in the product characteristics related to analysis and interpretation, data management, data sharing and collaboration, reporting of findings, compliance and security mechanisms, and type of content made available for meaningful knowledge extraction.

While this report does not intend to provide direct recommendations to end-users for Continue reading

The Biologists and Clinicians Still Require Hand-Holding When it Comes to Sequence Data Analysis and Interpretation

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Bioinformaticians are a bottleneck and at high demand. They are hard to find, hire, and retain, while typically being an expensive investment. This realization is not new, but has escalated with the sequence data explosion and now puts a huge challenge on commercial tool providers to build optimal analysis and interpretation solutions that will be embraced by biologists and clinicians, i.e. the non-computational scientists. Almost all commercial tool providers state that they offer a solution that is easy to use and requires minimal upfront training. However, reality shows that this is not generally holding true, and biologists/clinicians are still overwhelmed with most offerings in the field. If a solution is too “simplified,” it can’t provide the capabilities required to do a high-quality analysis on complex data. On the flip side, if the solution is too complex, it cannot be deployed and effectively used without training, which is what the field is experiencing. Furthermore, Continue reading

Just Released – Our New NGS Process Report! Market Trends, Unmet Needs and Challenges, and Ecosystem Analysis

Palo Alto, CA, June 14, 2016 – enlightenbio LLC, today announced the publication of its first NGS Process Report. This new report details market trends, unmet needs and challenges, and an extensive ecosystem analysis of the NGS analysis and interpretation space. This report is unique, in that it is not a predictive market research report, but rather builds on the data gathered from the many end-user interviews and the data available in the scientific literature.

The NGS process space is extremely busy with many commercial players that provideNGS Process image sequencing reagents, instruments, and analysis solutions. To decipher the NGS process and its components, a systematic analysis approach was undertaken rooted in the following questions: who are the key commercial companies in this process, who are the end-users and what are their unmet needs and challenges, and – when researching the analysis and interpretation side of the equation –  what challenges need the commercial life science product providers address, and who addresses them how?

For a limited time only, apply Promo Code FIRST10 and get 10% off when purchasing the report – valid until July 31, 2016. Continue reading

At AGBT 2016, the Winners Are Long Reads and Whole Solutions

AGBT_logo_RGBThis year’s pilgrimage of geneticist, genomics scientists, and along with that commercial companies was to the JW Marriott in Orlando and not as usual to Marco Island – however, we were assured that the next two AGBT events are already confirmed to be held on Marco Island again. The Orlando Marriott setting seemed fine; nothing beats the Marco island environment with its beach setting which is well worth the extra hour bus ride from the airport to take you there. Having said this, the setting appeared to be more favorable for the vendors in particular, given the more open arrangement of large suites inviting easy access and interactions with conference attendees. Continue reading

At Bio-IT 2015 Big Data via Integration Platforms for Data Analysis, Patient Monitoring, and Collaboration

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Last week’s Bio-IT World Conference and Expo in Boston was attended by more than 3,000 scientists, members of the pharmaceutical industry, and subject matter experts to discuss latest requirements in data analysis, management, and storage, and in the context of all of that, cloud computing and data integration.

For me the conference started out with an excellent keynote session by Chris Sander from Memorial Sloan-Kettering Cancer Center discussing on how to deliver Precision Medicine in cancer while touching upon the fantastic insights into the molecular diversity of tumors as provided in the Cancer Genome Atlas. He finished up with describing the cBioPortal which organizes data for over 20,000 tumor samples from 89 cancer studies. Following Continue reading

At ASHG 2014 genomics was everywhere, with big data and variant analysis/interpretation

AHSG Last week the annual gathering of human geneticists happened at the convention center in sunny San Diego. This year this engaging conference was dominated by genomics, and in particular the topics of big data, variant analysis and interpretation. This emphasis was clearly reflected in the scientific talks, but also in the commercial sector with many companies focusing on providing new solutions on variant analysis, reaching even into the clinical space.

Besides the scientific and commercial aspect of ASHG, which I will summarize later in this blog post, this year the conferences had a strong human side associated with it. For the first time two movies were presented – Genetics in Motion Movies – that were engaging and spot on considering recent news and announcements about the benefits and/or conflicts of knowing and understanding genetic diseases. The first movie [Twitch with Kristen Powers] explored the impact of genetic testing on a young person whose mother had Huntington’s disease. While the movie follows Kristen Powers as she undergoes testing for the disease, it also examines the basic science of the disease itself. The second movie [On Beauty with Rick Guidotti] nicely addresses the need of first recognizing the person before the disease. Rick Guidotti achieves this phenomenally by capturing the beauty of an individual person and not focusing primarily on the disease – his pictures are indeed amazing. Of special interest in this context is

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