Genohm Aims to Hit the Sweet Spot With a Customizable SLIMS + ELN Solution for Lab Information Management

For this month’s “Company Spotlight” blog series we are reviewing Genohm with an interview with Nick Beckloff, Director of US Operations at Genohm. Genohm is a 50-person company headquartered in Lausanne, Switzerland. I took this opportunity to learn more about Genohm, and SLIMS (Sample Laboratory Information Management System), their sample and data management software offering intended to address today’s challenges of managing the sample and data throughput in clinical, NGS, and other types of labs.

The following summarizes questions and answers from my dialogue with Nick Beckloff.

EB: Tell us more about Genohm – what need are you trying to address and what products/services do you offer?

NB:  Genohm’s mission is to reduce the complexity of life in the lab by offering a software package that distills the important aspects of a LIMS while providing functionality across many relevant spectra. We offer a flexible and customizable solution Continue reading

Just Released – Our New Clinical NGS Process Report

Palo Alto, CA, January 12, 2018 – enlightenbio LLC, today announced the publication of its Clinical NGS Process Report. This new report details the observations and learnings across the complex, multi-step informatics aspects following clinical NGS sample preparation and sequencing, and which includes data analysis, knowledge extraction, and clinical reporting of actionable findings. Market trends, including listing of major initiatives, merger and acquisitions, and a summary of patents are detailed within this report, while also highlighted are clinical customer/end-users’ unmet interpretation and knowledge extraction needs and challenges, and genetic testing lab preferences. Finally, an extensive comparison of solution providers in the SaaS and PaaS sector for the analysis and interpretation of clinical NGS data is included. 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 analysis of the clinical NGS sector.

While this report does not intend to provide direct recommendations on commercial offerings, the deep-dive analysis is an insightful review to help clinicians, researchers, commercial entities, and investors choose the best partner for success.

For a limited time only, apply Promo Code 10OFFCLINICALNGS and get 10% off when purchasing the report – valid until February 14, 2018.

Download Table of Contents to learn more about the report specifics Continue reading

Genomenon’s Automated Genomic Search Engine Mastermind Illuminates Current Trends in Genomic Literature – A Look at the Top Cited Variants Across the Scientific Literature

For this month’s “Company Spotlight” blog series we are taking a deeper look at Mastermind, an automated genomic search engine created by Genomenon, a University of Michigan spin-off. Mastermind, a comprehensive database of genomic disease-to-gene-to-variant associations, supports its users to search through millions of full text articles from the primary medical literature to identify variants of interest, prioritize them, and retrieve relevant articles for disease-gene-variant combinations. Rather than providing a regular Q&A with a company representative, we thought of illustrating the richness of Mastermind’s content and the associated functionalities via the retrieval of interesting citation data, as provided by Mark Kiel (CSO and co-Founder at Genomenon) and Lauren Chunn (Data Processing Intern at Genomenon). Specifically, the Genomenon team supplied a current trends analysis of widely cited variants within the genomic literature. Through this process they are able to paint a picture of the changing landscape of genomic research and medicine, from variants that have remained a common feature for decades to newly emerging variants over the last few years.

Genomenon is a 15 person company, headquartered in Ann Arbor, Michigan, and founded in 2014. To date, Genomenon has received $4.5M in funding (Angel, Venture investment and NIH SBIR Fast Track Grant), and has grown to become an independent company.

Mastermind is a genomic search engine comprising an index of titles, abstracts, and full text including figures and tables of 5.7 million prioritized primary articles. New Continue reading

Diploid Tackles the Challenges of Rare Disease Diagnostics

enlightenbio is excited to introduce our new “Company Spotlight” blog series where we will review some of the exciting work that is currently ongoing in up- and-coming companies. Moving forward we plan on reviewing and profiling some of these companies and their products on a regular basis.

At ASHG, I had a chance to meet with Peter Schols, CEO of Diploid, a small seven person company located in Leuven, Belgium. I took this opportunity to learn more about Diploid, and Moon, the software the company has built, and its intended application to help diagnose rare disease.

The following summarizes questions and answers from my dialogue with Peter Schols.

EB: Tell us more about Diploid – what need are you trying to address and what services do you offer?

PS: Diploid is a privately funded, rare disease diagnostics company founded in 2014. Diploid started with offering an interpretation service, helping our customers analyze rare disease sequence data. Customers send us NGS data of a patient together with a description of the phenotype, and we deliver a report listing the most likely candidate variants. We focus exclusively on rare disease testing and currently support the Continue reading

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.

ImageReportNGSAnalysisEco

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

Repositive Wants to Overcome Data Analysis and Sharing Challenges to Facilitate the Advancement of Science

Repositive-logoLast 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

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

enlightenbio Customer Spotlight: Lab7 Systems Product Definition, Strategy, and Positioning

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 Lab7 logoscience 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