AHSG 2017 Roundup – A Shout Out to the Women in Science

This year’s ASHG conference in Orlando was kicked off with an inspiring plenary talk by the ASHG President Dr. Nancy Cox, celebrating diversity, inviting refugees to join the human genetics research mission, and longing for the day when contributions by female scientists will be as valued and as acknowledged as those of men. She concluded with highlighting contributions of women to genetics and science thus far, and by sharing her desire that the future will have a more positive outlook in this regard.

This powerful opening talk was followed by a presentation by Bill Gates and a conversation between Bill Gates and Dr. Francis Collins on global health and genomics. Gates highlighted different projects the Bill & Melinda Gates Foundation had been Continue reading

Bio-IT 2017 – Data Security, Data Sharing, Data Access, Data Integration, Data …

 

The 15th annual Bio-IT conference – with the theme “Building a global network for precision medicine by uniting the Bio-IT community” – clearly had as its underlying theme the many different aspects of data that need to be addressed to make precision medicine a true reality, as echoed throughout the many talks and discussions. This was reflected in both the keynotes, as well as the panel discussions that focused on data regulations, security, and getting patients to feel good about sharing their data. The first hackathon launched by Bio-IT World had the focus on FAIR [findable, accessible, interoperable, and reproducible] data. Many commercial announcements or recent advancements in artificial intelligence revolved around new and improved data analysis solutions. This year’s Best in Show award selections featured Starfish Storage’s Starfish V4, SciBite LaunchPad, SolveBio’s Operating System for Molecular Information, Dana Farber Cancer Institute / The Hyve’s MatchMiner v1.0, and Seven Bridges’ CAVATICA.

Coinciding with Bio-IT were a number of major announcements as listed below:

Benjamin Franklin Award

  • This year’s Benjamin Franklin Award – an award presented annually by bioinformatics.org to an individual who has, in her or his practice, promoted free and open access to the materials and methods used in the life sciences – was awarded to Rafael Irizarry, Professor of Biostatistics at Harvard and the Dana-Farber Cancer Institute, who has dedicated his career to developing statistical methods and open source software for helping researchers analyze genomics data.

Best Practices Award

  • As every year the commercial sector is actively following the Best Practices awards leading up to this event (check out the pre-conference finalists). This year’s Best Practices award winners included the Maccabi Healthcare System “Clinical IT & Precision Medicine” for the implementation of an advanced AI and machine learning algorithms to identify high-risk, under-the-radar patients, Rady Children’s Institute for Genomic Medicine in “Informatics” for improved and expedited precision medicine for newborns by 26-hour whole genome sequencing, Allotrope Foundation in “Knowledge Management” for developing a holistic set of capabilities to improve data access, interoperability, and integrity through standardization, and the Earlham Institute in “IT infrastructure/HPC” by applying high-performance computing to improve global food security, Biomedical Imaging Research Services Section (BIRSS) as the Judges’ Choice Award, and last but not least Alexion Pharmaceuticals as the Editors’ Choice Award.

Best of Show Award

Data management and analysis

Data interpretation

Informed drug discovery

Miscellaneous

Funding

 

AGBT 2017, a Mix of Single Cell Genomics, Long Read Technology, and More

This year’s meeting followed the true and tested script of past AGBT installments. Similarly to last year’s conference, the technological advancements seemed to have slowed and somewhat resulting in no breakthrough announcements, while a larger emphasis was put on the scientific talks. Software analysis announcements related to secondary and tertiary sequence data analysis solutions were almost not present.

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Interestingly, the much liked software demo session was mostly reduced to three open source demonstrations and a demonstration of Optalysys, a light-based sequence alignment technology. Too bad, as the software demo part provided a great opportunity to get up to speed with the latest developments across the many commercial solutions Continue reading

Can 2017 top 2016?

In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.

The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.

2016

Next-generation sequencing matures

In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated 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

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