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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 and/or is currently pursuing and that genetics has been playing a major component in that work. He discussed in detail the importance of African genomics and microbiome studies. Gates raised an interesting point by highlighting, that precision medicine should not necessarily be the highest priority when we need resources to address (chronic) diseases such as diabetes or Alzheimer’s. All in all, this was a fantastic discussion, and it was impressive to hear a leader in technology elegantly articulate current healthcare needs – see the full recording.

The evening concluded with some amazing parties, including the Illumina party that featured no one less than Francis Collins rocking with other scientists.



Some additional conference highlights included Edico Genome (together with Children’s Hospital of Philadelphia [CHOP]) setting a new scientific world record (recorded by the Guinness World Records) in rapidly processing whole human genomes into data files useable for researchers aiming to bring precision medicine into mainstream clinical practice. Utilizing Edico Genome’s DRAGEN Genome Pipeline deployed on 1,000 Amazon EC2 F1 instances on the Amazon Web Services (AWS) Cloud, 1,000 pediatric genomes were processed in two hours and twenty-five minutes.  Daniel MacArthur discussed the genetics of complex traits and that we simply need to sequence the 7 billion humans on the planet to not miss any human variation – over 2 million of exomes and genomes are already sequenced. In this context, he discussed the exome/genome aggregation databases ExAC/gnomAD two large and diverse reference data sets. Cris Van Hout was describing the Regeneron Genetics Center approach of leveraging human genetics for therapeutic development, and illustrated the importance of having laid the foundation five years ago, reaching 50+ collaborators including Geisinger Health Systems and the UK Biobank.

Let us now briefly review a few of the different announcements that coincided with the conference spanning commercial product launches, new partnerships and collaborations, product integrations, and other interesting and relevant topics.

Strategic partnerships and collaborations

Edico Genome And Fabric Genomics partner to develop Integrated Solution For Genomic Analysis. The goal of this collaboration is to provide an integrated solution for secondary and tertiary analysis of next-generation sequencing data. Through this partnership, users will be able to seamlessly utilize Edico Genome’s DRAGENTM Bio-IT platform in conjunction with the Fabric Genomics’ Opal™ Clinical variant interpretation platform.

PacBio and Bluebee launch de novo genome assembly pipeline on the Bluebee Analysis Platform. The integration of the PacBio® de novo assembly pipeline onto the Bluebee® genomics analysis platform creates a simplified workflow and fully automated, end-to-end data analysis solution that allows assembly of any size genome, including the human genome.

PlumCare Partners with PBKM FamiCord to bring family DNA testing to Europe. The new collaboration will deliver the first-ever lifetime DNA testing and advisory services to help families take control of their health. The service is called PlumCare DNA Advisor – it provides families one place for DNA testing, genetic advisory services and the ongoing monitoring of relevant scientific advances relevant to them.

LifeOmic leverages Genomenon’s Mastermind Genomic Search Engine for variant interpretation. LifeOmic will use Mastermind’s Genomic Search Engine to streamline clinical interpretation of LifeOmic’s genome sequencing data.

Product launches

GENEWIZ launches CLIA Sanger sequencing and new NGS amplicon sequencing. GENEWIZ’s new Amplicon-EZ service builds on the advantages of NGS-based screening and provides an interactive solution for researchers to sequence mixed PCR products. GENEWIZ expands into clinical genomics testing with the launch of its CLIA Sanger Sequencing service which is CLIA-certified and CAP Accredited.

OnRamp reveals Rosalind™ Platform, a data analysis and interpretation platform.

Genomenon announces free Mastermind Genomic Search Engine Mastermind provides web-based search portal of medical literature comprising over 5.5 million full text genomic articles cataloguing the genetic relationships to human diseases including cancer.

Mission Bio launches Tapestri and announces Series A funding round. The Tapestri platform leverages proprietary droplet microfluidics to provide single-cell DNA analysis and high-throughput, enabling detection of genomic variability within and across cell populations.

10x Genomics announces the addition of Unbiased Gene Expression and B-cell Repertoire to the Chromium™ Single Cell V(D)J Solution. The new features added to the existing solution, include unbiased digital gene expression via 5’ cell-linked barcoding and UMI tagging of cellular transcripts on a single cell basis, together with full-length, paired human B-cell immunoglobulin sequencing, including isotypes.

Agilent expands SureGuide Portfolio with CRISPR-based products to accelerate disease research. This first expansion of the SureGuide pooled CRISPR libraries supports functional genomics, and offers pooled libraries for CRISPR activation and interference (CRISPR a/i).

Data management, analysis, and interpretation

The Jackson Laboratory and Seven Bridges collaborate to a build centralized data platform. The goal of this new NCI-funded data platform is to accelerate translational research using patient-derived tumor xenograft (PDX) datasets. This joint initiative will establish a PDX Data Commons and Coordinating Center to support PDXNet, a collaborative network that coordinates large-scale testing for preclinical therapeutic cancer drugs in PDX trials.


WuXi NextCODE integrates Oxford Nanopore into the Global Platform for Genomic Data. This is the first open-access installation of Oxford Nanopore instruments in a CAP/CLIA lab in China – at WuXi NextCODE’s sequencing laboratory in Shanghai.

Thermo Fisher Scientific’s Oncomine Dx Target Test for Non-Small Cell Lung Cancer receives coverage from first regional health plan Thermo Fisher Scientific today announced its Oncomine Dx Target Test has received a positive coverage decision by Regence BlueCross/BlueShield

Macrogen Corp.’s clinical NGS laboratory receives CAP accreditation

Daniel MacArthur provides a response to “Proposal to Update Data Management of Genomic Summary Results Under the NIH Genomic Data Sharing Policy”

Research highlights

7 genetics papers to get you excited for ASHG 2017



Brigitte Ganter


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