Now Available: Individual Clinical NGS Process Report Chapters

We are currently offering the individual chapters and the full report at a 10% discount with promo code 10OFFCLINNGSNOW.

The recently released Clinical NGS Process Reportreleased January 12, 2018 – 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.

You spoke – we listened: To make this report more accessible to individuals that only have an interest in a section we are now providing access to individual chapters. The following chapters are now available for separate purchase:

  1. Clinical End-User Feedback
    1. Conducted a series of end-user interviews to understand clinical needs, testing lab preferences, and challenges when receiving clinical variant data and communicating findings to the physician and the patient.
  2. Clinical NGS Market Trends
    1. NGS adoption challenges.
    2. Innovations and technology trends impacting clinical NGS applications.
    3. Mergers and acquisitions impacting clinical NGS.
  3. Ten Years of NGS Patents
    1. Studied the last ten years of NGS assignees across all NGS patent families, number of patents of leading commercial companies, and clinical-grade genetic/diagnostic testing providers.
    2. Top patent assignees across all NGS patent families.
    3. Contributed by our partner company Pramoedya Biointelligence.
  4. Clinical NGS Projects/Initiatives
    1. Detailed review of 38 global human genome-based initiatives.
  5. The Clinical NGS Data Analysis & Interpretation Ecosystem
    1. Evaluated 26 key commercial software and platform providers that offer a clinical NGS analysis or interpretation solution, to understand their product focus and offered capabilities, their strategy to address end-user needs, and more.
  6. Company/Product Profiles
    1. Reviewed 26 key companies with comprehensive solutions across the entire Clinical NGS Workflow, including genetic testing/diagnostics service providers their product focus, offered capabilities, and their strategy to address end-user needs, and more.

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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

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

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