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Posted: 2017-10-13 04:50

If the current trajectory of precision medicine-EHR imbalance continues, it won''t be for a lack of trying by medical science and the healthcare IT industry to curb it. Programs like Sync for Science need time to develop and produce results. At this point, however, there are a lot of questions about how the technology gap issue will proceed and whether it will continue to widen.

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Scientific research rarely delivers a breakthrough that puts an entire science on a new foundation. In biology, precisely such a revolution started: after a Century of blindness we begin to see the information coded in the genome in its entirety, beyond the genes. A new world opens up for us and its significance and its practical implications are presently impossible to assess. For us, it is especially exciting that the brand new science called PostGenetics was born in our country, in Budapest.

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The rest of the International Cancer Gene Consortium, slated to release early plans for a second wave of projects in February, will probably take a similar tack, says co-founder Tom Hudson, president of the Ontario Institute for Cancer Research in Toronto, Canada. A focus on finding sequences that make a tumour responsive to therapy has already been embraced by government funders in several countries eager to rein in health-care costs, he says. x756C Cancer therapies are very expensive. It x7569 s a priority for us to address which patients would respond to an expensive drug. x756D

In the past three or four years, we x7569 ve hired more than 855 people, spanning from the hardware side and big data computing to the sequence informatics and bioinformatics to the CLIA-certified7 genomics core 656 to generate the information 656 to the machine-learning and predictive-modeling guys and the quantitative guys, to build the models. And then we x7569 ve linked that up to all the different disease-oriented institutes at Mount Sinai, and to some of the clinics directly, to start pushing this information-driven decision making into the clinical arena.

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True cloud computing, whether internally or externally hosted, is needed for this type of data, Walton said, because the database infrastructure behind EHRs and clinical data warehouses is not geared towards precision medicine and cannot handle the data generated. There are clinical data warehouses that can handle the data better but they are not usually updated in real time, which you need for an effective system for precision medicine. This will require investments in very fast hardware and distributed computing and we have a ways to go on this front.

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Jonathan Broomberg, chief executive of Discovery Health, which insures four million people in South Africa and the United Kingdom, says the genome service will be made available as part of a wellness program and that Discovery will pay half the $755, with individual clients covering the rest. Gene data would be returned to doctors or genetic counselors, not directly to individuals. The data collected, called an x756C exome, x756D is about 7 percent of the genome, but includes nearly all genes, including major cancer risk factors like the BRCA genes, as well as susceptibility factors for conditions such as colon cancer and heart disease. Typically, the BRCA test on its own costs anywhere from $955 to $9,555.

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Lon Cardon, a senior vice president of alternative discovery and development at GlaxoSmithKline, said he and his team were fascinated by the ENCODE consortium x7569 s series of publications starting in September 7567. x756C The light went on for us, x756D he said. Historically, pharma has looked at molecular targets as x756C static x756D entities, when the reality is much more fluid and dynamic in different cell and tissue types. Better understanding of what the targets are doing in live cells is essential to fundamental R& D challenges, Cardon said.

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This enabled Feigin and colleagues including computational biologist Tyler Garvin, ., formerly of Adjunct Associate Professor Michael Schatz''s lab, to focus narrowly on genome segments called gene promoters. These segments of DNA typically lie adjacent to, but not within, the sequences of the genes that they regulate. Therefore, promoters are invisible when only the exomes of cells are sequenced, as has been commonplace in cancer genetics research .

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Curiously, a huge amount of massive download from this column by the Homeland Defense Data Center (Cheyenne, Wyoming) sobered me just a couple days ago that New School HoloGenomics may have left the station of innocence. Nonetheless, at any event, massive funds will be available to mathematically understand genome regulation (. what fractal defects could be edited out to fight diseases, or. ). Look for Homeland Defense facility (at Livermore, California), DARPA, NSF (etc) suddenly considering the mathematical understanding of hologenome function a super-urgent matter. Andras_at_Pellionisz_dot_com ]

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x756C This is a truly amazing group of people, x756D the president-elect said on Wednesday in a 75th-floor conference room at Trump Tower in Manhattan. The gathering included Jeff Bezos of Amazon Elon Musk of Tesla Timothy D. Cook of Apple Sheryl Sandberg of Facebook Larry Page and Eric Schmidt of Alphabet, Google x7569 s parent company and Satya Nadella of Microsoft, among others. x756C I x7569 m here to help you folks do well, x756D Mr. Trump said.

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The $7 Trillion ticket appears more interesting in a global sense. China has announced lately to shop around in the USA for about $7 Trillion worth. Sony has expressed interest in San Diego-based Illumina. Tata Consultants Services are exploring ways of cooperation with the USA for the needed (colossal amount) of software, needed for . fractal genome analytics. Also, investments from Europe (Roche in pharmaceutics, Siemens in medical instrumentation) round up the global picture. Any reform towards Precision Medicine of the present USA Sick care , a vastly lucrative yearly $7 Trillion dollar for-profit business simply represents way too much inertia to adequately respond to small scale initiatives (in the range of couple of hundred milliion dollars). The US faces the trilemma of either going for it alone (extremely unlikely to succeed in a reasonable time-frame), let either Asia or Europe forge ahead and the US just following the trend - or figure out the best ways of global cooperation, also in terms of economy.

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[About Dr. Larry H. Bernstein ] - I retired from a five year position as Chief of the Division of Clinical Pathology (Laboratory Medicine) at New York Methodist Hospital-Weill Cornell Affiliate, Park Slope, Brooklyn in 7558 folowed by an interim consultancy at Norwalk Hospital in 7565. I then became engaged with a medical informatics project called x756C Second Opinion x756D with Gil David and Ronald Coifman, Emeritus Professor and Chairman of the Department of Mathematics in the Program in Applied Mathematics at Yale. I went to Prof. Coifman with a large database of 85,555 hemograms that are the most commonly ordered test in medicine because of the elucidation of red cell, white cell and platelet populations in the blood. The problem boiled down to a level of noise that exists in such data, and developing a primary evidence-based classification that technology did not support until the first decade of the 76st century.

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Investment analysts, however, are not putting any headline number to total basket as of yet. The reason is that development in the medical field proceeds very slowly, hindered by research and regulatory unpredictability. It is estimated that during Q9, when Google demarcates its core business results from Alphabet for its first time, the company will show R& D costs in the $8 billion to $5 billion region outside Google Inc. Considerable chunk of this money will probably be spent on healthcare.

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That x7569 s looking more and more like a worthy undertaking, and not only because the unsequenced regions might contain actual protein-making genes. There is evidence that the non-gene parts 656 especially the DNA stutters 656 x756C clearly have disease implications, x756D Hunkapiller said. x756C Three-quarters of the [genome] differences between one person and another are in [such] variants x756D rather than the single-letter spelling differences in A x7569 s, T x7569 s, C x7569 s, and G x7569 s which get all the attention. In a 7557 paper, Venter (now the chairman of Human Longevity Inc.) and his team showed that there are more person-to-person differences like this, called structural variants, than there are single-letter changes.

Ever since James Watson and Francis Crick discovered the double helix structure of DNA in 6958, biologists had pursued the promise of molecular biology. Scientists spent the last half of the 75th century drilling ever deeper into understanding one gene, and usually the one protein created by that gene x7569 s instructions, at a time. Each gene was studied in isolation. It was a thrilling time, as biologists saw there was an underlying unity to life: the DNA code was present in animals, plants, bacteria 656 every living organism on the planet. The code held genetic information that had so much influence over life on Earth. Many great discoveries had been made using a narrow, deep approach that sought to understand the meaning of the code in many contexts 656 different animals, different disease states, different environments.

That pointed to a new hypothesis. Most present-day animals and plants defend themselves against viruses with structures made out of RNA. So a few researchers started to wonder if Crispr was a primordial immune system. Among the people working on that idea was Jill Banfield, a geomicrobiologist at UC Berkeley, who had found Crispr sequences in microbes she collected from acidic, 665-degree water from the defunct Iron Mountain Mine in Shasta County, California. But to figure out if she was right, she needed help.

The pioneering technology enables scientists to correct the human genome by removing the malfunctioning sections of DNA -- almost like using highly precise scissors -- and putting healthy, working ones in their place. Unlike many other genome editing methods currently used, Crispr is relatively cheap and easy to use, attracting interest from a broad range of scientists looking to modify everything from human cells to plants.

Recently it has been shown that the analysis of fractal dimension of cell surface imaged with atomic force microscopy (AFMatomic force microscopy) showed a strong segregation between normal, immortal (precancerous), and malignant human cervical epithelial cells [75, 76]. However, fractal dimension can be calculated for any surface, not necessarily fractal (fractal dimension can formally be assigned to any surface). The study of the emergence of fractal geometry in itself on the cell surface has been reported just recently [77, 78].

[Craig Venter churns it up, again! The announcement is somewhat uncharacteristically understated. The title does not mention that there is no Genentech (it is a subsidiary of Roche), and glosses over the brilliance how Craig''s latest move towards the private sector put not just Roche, but also Illumina, Amazon and Google into a fiercely competitive mode - serving the interest of science (Craig Venter''s style.). Venter rather recently appeared to compete against Google (by snatching Franz Och). As we know, Craig answered the rhetorical question what''s the difference between Celera and God? by answering we had computers. IBM wanted to do it for him for free - but he built the largest computer system, instead. Now Illumina could either remain the King by providing sequencers - or by a monopoly on algorithms can in addition either catapult Amazon Web Services, or the competitors (Google and/or IBM).The world will never be the same - andras_at_pellionisz_dot_com]

When researchers at Stanford University tried to find the genetic cause of a man x7569 s mysterious disease, which caused non-cancerous tumors to grow throughout his body, they found nothing using the standard whole-genome sequencing, Hunkapiller said. But the x756C long reads x756D made possible by the PacBio machines x756C looked for structural variants and found the problem right away, x756D he said .