Last week the world of human geneticists met in Boston for their annual conference to meet and engage with other scientists, to share their latest findings, or to learn about new products and how they can make their life a lot easier. Here are 
some of the major announcements from the ASHG conference that are worth mentioning:
• Personalis Launches the ACE Clinical Exome™: Personalis, a provider of whole genome and exome sequencing and data interpretation services launched early access to their single test ACE Clinical Exome program, which integrates exome sequencing with genome-wide structural variant detection. The early access program will provide clinical reports with a turnaround time of 8 to 12 weeks. The full service is expected to launch in Q1 of 2014.
• Genomics England Ltd., and Illumina Collaborate to Sequence 10,000 Whole Human Genomes for National Health Service Patients: Genomics England announced the start of a three-year project for which they will sequence 10,000 whole genomes of children and adults with rare genetic diseases. This is the pilot project, which will be done in collaboration with Illumina for the national endeavor to sequence 100,000 genomes in the UK National Health Service (NHS), which was recently announced.
• OpGen and Hitachi High-Technologies Collaborate to Develop Human Chromosome Mapping Analytical Service: OpGen, a genetic analysis company, announced to partner with Hitachi High-Technologies with the goal to develop a human chromosome mapping analytical service for clinical research applications. The approach is to combine OpGen’s Whole Genome Mapping technology with Hitachi’s cloud- based system.
• Bina Debuts RNA-Seq Processing and Web-based Evaluation at American Society of Human Genetics: Bina Technologies announced the added capability of RNA-Seq analysis to their portfolio. This new application will also run on Bina’s Genomic Analysis Platform, a fast, accurate, and scalable analysis platform.
• BGI Partners With Life Technologies to Offer Faster, More Affordable Sequencing Applications on Ion Torrent(TM): BGI announced that they have purchased 37 Ion Proton(TM) Sequencers and plan to add at least a dozen more by the end of the year, continuously strengthening the organization’s leadership position in the genomics industry.
• BioDatomics launches genomics platform: BioDatomics is another new player in the area of sequence data analysis software and services. The new platform was built to address shortcomings found with current data analysis offerings, such as performance issues and user experience. BioDatomics claims an easy-to-use and intuitive interface for genomic and biomedical researchers to build pipelines quickly. BioDatomics states that by the time of product release (currently scheduled for Dec 2013), they will include more than 400 commonly used analysis tools, including the entire Galaxy library.
• QIAGEN’s Ingenuity® Variant Analysis™ Selected for Translational Genomics by Icahn School of Medicine at Mount Sinai: Mount Sinai Genetic Testing Laboratory and the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai in New York City announced that they have adopted the Ingenuity® Variant Analysis solution for research and translational genomics applications related to characterizing and identifying rare diseases.
• NextCODE Health Launches Operations with Exclusive License to Leverage deCODE genetics’ Genomics Platform for Sequence-Based Clinical Diagnostics, and $15 Million in Venture Financing: deCODE with its large genomics platform and content (genomics data for over 350K Icelander) spins off NextCODE Health to provide genomics services for the clinical setting. The new company has secured an exclusive license for sequenced-based clinical diagnostics Dx applications using deCODE’s content.
• BIOBASE Launches PharmacoGenomic Mutation Database (PGMD™) – a Knowledge-base Containing Genetic Variants that Affect Drug Response: BIOBASE, a provider of expert-curated biological databases, software and services announced the release of PGMD. PGMD is a database of detailed genotype-phenotype relationships derived from in vivo pharmacogenomic patient studies, stemming mostly from clinical trials, with insights pertaining to response rate, risk of adverse events, realization of expected outcomes (e.g. patient survival), pharmacokinetic parameters such as dose requirements, and more. PGMD complements HGMD and provides a resource for pharmacogenomic decision-making based on coding SNPs by giving scientists and clinicians actionable insights into what variants are likely to influence drug response. PGMD has content similar to PharmGKB (from Stanford), which has been really the only pharmacogenomics-type database available to-date.
• Baylor’s HGSC, DNAnexus, Amazon Team Up in Cloud-Based Analysis of DNA Data: CHARGE, a Baylor effort in partnership with DNAnexus and Amazon is an exemplary effort that demonstrates that the cloud is the right tool to manage massive amounts of whole genome and exome data (3,751 whole genomes and 10,771 exomes for 14K individual, a total of 860 TB of data), while allowing more than 300 researchers across five institutions worldwide to analyze the data together.
• Qiagen acquires CLC bio: Qiagen adds CLC bio, a bioinformatics software provider with a focus on next-generation sequencing (NGS) to their portfolio. This acquisition follows the recent Qiagen acquisition of Ingenuity Systems, which strengthens Qiagen as a key player in the market as it enables the creation of a complete workflow from biological raw sample to meaningful molecular insights.
• Illumina Signs Agreement to Acquire NextBio, Leader in Analyzing and Aggregating Complex Genomic Data: Though not released at ASHG, but shortly thereafter, a press release worth mentioning in conjunction with ASHG. Illumina buying NextBio enriches Illumina’s BaseSpace platform with scientific information and patient data that nicely marries technology with knowledge and therefore helps its users get from raw data to extracted knowledge more efficiently via powerful workflows.
