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Cypher Releases Validation Data on CNVs
Bio-IT World | Cypher Genomics released data last month showing that the company’s Mantis software provided “highly equivalent interpretations” to a panel of genetic counselors when evaluating whether 91 copy number variations (CNVs) detected in non-invasive prenatal testing were pathogenic.
Apr 10, 2015
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Open Humans Aims to Be the Social Network for Science Volunteerism
Bio-IT World | The Open Humans network has launched as a social network to connect research participants with new scientific studies, backing projects like the Harvard Personal Genome Project and American Gut that allow members to own, share, and publicize their own data.
Apr 9, 2015
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Microexons In the Autistic Brain
Bio-IT World | A recent transcriptomic study has revealed that hundreds of proteins have bonus snippets one to nine amino acids in length that are expressed primarily in the brain, altering protein function compared to isoforms elsewhere in the body. In autistic brains, about a third of these snippets are more often skipped.
Apr 8, 2015
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What We Are Looking Forward To At #BioIT15
Bio-IT World | As part of the precision medicine initiative, President Obama proposed a $215 million investment intended to improve how we treat disease and foster health. What’s needed now is the infrastructure to turn data into discovery. This year’s Bio-IT World Conference & Expo (April 21-23, #BioIT15) will be three days of conversations in 12 tracks around those very challenges.
Apr 6, 2015
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Prenatal Screener Natera Grabs $55M Considers Cancer Test
Xconomy | In the increasingly active genetic testing space, Natera is trying to lead the pack by harnessing its testing capabilities, thanks to a new $55.5 million funding round.
Apr 6, 2015
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April News and Product Briefs
Bio-IT World | News and product briefs from Quest Diagnostics, Personalis, QIAGEN, Qlucore, Berry Genomics, SCIEX, Ancestry, Linguamatics, and much more.
Apr 3, 2015
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2015 Bio-IT World Best Practices Finalists Announced
Bio-IT World | Bio-IT World announced finalists in its 2015 Best Practices Award competition this morning. The 25 finalists will compete for seven awards chosen by a panel of expert judges. The winners will be announced during the keynote session at the Bio-IT World Conference and Expo on April 22, in Boston.
Apr 2, 2015
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New Cas9 Molecule Points the Way to Viral Delivery of CRISPR Systems
Bio-IT World | A paper published in today's issue of Nature demonstrates that exploring the natural diversity of CRISPR systems could lead the way to new therapeutic tools, as scientists at the Broad Institute successfully edit the genomes of mice using an AAV vector and a new Cas9 molecule derived from Staphylococcus aureus.
Apr 1, 2015
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LifeMap Solutions Teams Up with Mount Sinai on Digital Health
Bio-IT World | This morning, LifeMap Solutions announced the launch of COPD Navigator, a mobile health app for people living with chronic obstructive pulmonary disease, in a pilot program conducted with Mount Sinai's Icahn Institute for Genomics and Multiscale Biology.
Mar 31, 2015
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How GitHub Apparently Ended Up In The Crosshairs Of Chinese Hackers
ReadWrite | It involves dissidents hacking ways around the Great Firewall.
Mar 31, 2015
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Choosing the cloud that’s right for you
Computerworld | There are degrees of commitment to the cloud, and more than one cloud model to consider.
Mar 31, 2015
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New York Genome Center Launches First LDT, Whole Exome Sequencing
Bio-IT World News Brief | The New York Genome Center (NYGC) announced today that it has received approval from the New York State Department of Health to offer clinical whole exome sequencing for individuals with constitutional disorders. This is the first laboratory-developed test, or LDT, from the Center to be cleared for clinical diagnostic use.
Mar 30, 2015
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Horizon Pays $1.1 Billion for Hyperion’s Rare Disease Drugs
Xconomy | Big buyout for an orphan drug company. Hyperion's two therapies treat urea cycle disorder, and earned the company $113.6 million in 2014.
Mar 30, 2015
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GigaScience Paper Demonstrates Pathogen Detection on the MinION
Bio-IT World News Brief | A team of researchers led by Andy Kilianski of Maryland’s Edgewood Chemical Biological Center has published a paper demonstrating the use of the MinION nanopore sequencer to accurately identify strains of bacteria and viruses.
Mar 27, 2015
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New Crop of Biotechs from Y Combinator
Tech Crunch | This week marked Demo Day for budding companies incubated in Silicon Valley accelerator Y Combinator, which began putting out feelers for biotech startups last year and is now moving with more confidence into the biomedical field.
Mar 26, 2015
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Emerald Opens Cloud Lab Facility
Bio-IT World News Brief | Emerald Therapeutics is opening its first Emerald Cloud Lab (ECL) production facility, ECL-1, in the biotech corridor of South San Francisco. The robotics life sciences laboratory was announced last year, though plans were already underway for a move to South San Francisco. Since then, the company built a new production facility from the ground up and installed over $3 million of scientific instrumentation.
Mar 25, 2015
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deCODE Publishes Largest Human Genome Population Study
Bio-IT World | With a package of four papers published today in Nature Genetics, deCODE genetics presents the largest set of human genomes from one population, and findings including a set of complete human knockouts, a new timeline for the common Y-chromosome ancestor, and loss-of-function variants that confer Alzheimer’s disease risk.
Mar 25, 2015
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Systematic Overhaul Recommended for Human Brain Project
Nature News | An independent committee reviewing the goals and practices of Europe's Human Brain Project (HBP) has substantially sided with critics of the effort, proposing major changes to the HBP's governance and to its central mission of creating a computer simulation of the human brain.
Mar 24, 2015
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New Online Tool Creates Guide RNAs for CRISPR Gene Editing
Bio-IT World | Horizon Discovery, a Cambridge, UK-based research supply company with a focus on gene editing experiments, has launched a free online tool to design guide RNA for CRISPR experiments.
Mar 20, 2015
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CRISPR in the Germline
Bio-IT World News Brief | There is a renewed urgency to public conversations about the ethics of genome editing, thanks to the emergence of CRISPR, a gene engineering technology so effective and easy to use that scientists are racing to keep up with its potential applications.
Mar 20, 2015