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Category Archives: Genome
Hiro MuseDaidai Genome/ Orange Genome (Vocaloid)Japanese Cover [Secret Santa For Haruhi 2014!] – Video
Posted: December 22, 2014 at 9:44 pm
Hiro MuseDaidai Genome/ Orange Genome (Vocaloid)Japanese Cover [Secret Santa For Haruhi 2014!]
HEEEEEEEEY! Merry Christmas and a Happy New Year to one and all especially you Haruhi! Unfortunately, I #39;m your secret Santa this year, hahaha... //ugly sobbi...
By: Hiro Muse
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Hiro MuseDaidai Genome/ Orange Genome (Vocaloid)Japanese Cover [Secret Santa For Haruhi 2014!] - Video
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December 15th – Fay Dowker – Cosmic Genome Science Advent Calendar – Video
Posted: December 21, 2014 at 3:44 pm
December 15th - Fay Dowker - Cosmic Genome Science Advent Calendar
From the Archive - Prof Fay Dowker tackles the concept of spacetime. Every day a new free science clip from the good people at Cosmic Genome. Head to cosmicg...
By: The Incomplete Map of the Cosmic Genome
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December 15th - Fay Dowker - Cosmic Genome Science Advent Calendar - Video
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December 18th – Matt Parker – Cosmic Genome Science Advent Calendar – Video
Posted: at 3:44 pm
December 18th - Matt Parker - Cosmic Genome Science Advent Calendar
If you need to know the best way to stack your oranges into a box, Matt Parker #39;s got the answers. Every day a new free science clip from the good people at C...
By: The Incomplete Map of the Cosmic Genome
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December 18th - Matt Parker - Cosmic Genome Science Advent Calendar - Video
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Francis Collins: Building on the human genome sequence – Video
Posted: at 3:44 pm
Francis Collins: Building on the human genome sequence
A short film where Dr. Francis Collins, director of the NIH and one of the leaders during the Human Genome Project, talks about how the completed human genome sequence has been used to tell...
By: yourgenome
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5 Crazy Habits You Might Adopt With Low-Cost Genome Sequencing
Posted: at 3:44 pm
The $1,000 human genome took a giant leap closer to reality when Illumina launched the HiSeq X Ten Sequencing System in early 2014. Sequencing your genome costs over five times that amount using any other system, and had cost nearly 10 times that amount as recently as 2007. In other words, the company is easily setting the pace for the next-generation sequencing market -- and causing prices to drop precipitously every few years.
The cost of sequencing a full human genome as estimated by the National Human Genome Research Institute. Costs do not account for Illumina's latest system. Image source: Ben Moore/ Wikimedia Commons .
While Illumina specializes in data quantity for full-length genomes, thePacBio RS II from Pacific Biosciences allows researchers to zoom into specific regions of a sequence with exceptional accuracy. The two systems are often used together to provide a full range of capabilities. That bodes well for genomics researchers and pharmaceutical companies, but the appetite for larger volumes of high quality data will trickle down to consumers in the form of even lower-cost gene sequencing.
If sequencing costs fall to several hundred dollars (or less)by the end of the decade, everyday life will look a little different than it does today.Let's take a look at five habits you may adopt, from the time you're born to the day you retire, when low-cost genome sequencing becomes commonplace.
1. The habit of screening the full genomes of newborns Today, all babies born in a hospital in the United States are screened for various diseases before they're sent home. Although the conditions tested vary slightly from state to state , current tests send blood samples drawn from a baby's heel to the hospital's lab for testing. While considered one of the most successful public health programs on the planet, today's newborn genetic screening tests only look for several dozen health conditions. Full-genome sequencing could alleviate diagnostic bottlenecks inherent to current blood tests and greatly expand the usefulness of newborn sequencing.
By allowing parents to peer into the full genome of their newborn, doctors could monitor individuals genetically shown to be at increased risk of disease or even begin preventative or early treatment. Most parents would welcome the insights, according to a study recently published in Genetics in Medicine . Doctors approached 514 parents each within 48 hours of their child's birth, explained the genome's impact on human health, and asked if they'd be interested in newborn genomic screening. Nearly 83% expressed some level of interest in the tests if they were available, which could become routine in the next decade.
2. The habit of routine sequencing "checkups" Sequencing wouldn't stop once you left the hospital after being born. While you may be born with a unique genetic code, your environment plays a critical role in determining which genes are expressed and silenced. Factors such as nutrient intake, stress levels, exposure to specific chemicals, altitude, physical activity, and many more can turn genes on and off throughout your lifetime.
If sequencing costs become low enough, then you might undergo routine genetic screenings every few years, at your annual physical, or even every time you become ill to track changes in your genome over time. Similar to newborn genomic screening, routine genomic checkups could detect diseases at the earliest stages of development, which, if used across a sizable population, would have a profound effect on our approach to healthcare by allowing more preventative treatments.
3. The habit of buying products optimized for your genes You shouldn't have to fight back anxiety every time you peer into your genome for fear of being at an elevated risk for disease. Luckily, some of your results will have nothing to do with health at all. Not convinced that reading your genome sequence could ever be fun? Well, specific results could affect the way you shop.
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5 Crazy Habits You Might Adopt With Low-Cost Genome Sequencing
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Epigenetics and Your Genome: Development, Disease and Behavior – Video
Posted: December 20, 2014 at 9:43 am
Epigenetics and Your Genome: Development, Disease and Behavior
Epigenetics and Your Genome: Development, Disease and Behavior Daniel Simola, PhD, Research Associate in the Laboratory of Dr. Shelley L. Berger at the University of Pennsylvania An overview...
By: UPENN NBIC
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Epigenetics and Your Genome: Development, Disease and Behavior - Video
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DaiDai Genome DT – Video
Posted: December 19, 2014 at 2:44 pm
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Whole genome MLST: The Quality assessment window (BioNumerics 7.5) – Video
Posted: at 2:44 pm
Whole genome MLST: The Quality assessment window (BioNumerics 7.5)
In this video the Quality Assessment window is covered. This window summarizes the results obtained from the calculation engine (the quality of the output, t...
By: Bio Numerics
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Whole genome MLST: The Quality assessment window (BioNumerics 7.5) - Video
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Reading the human genome with machine learning – Video
Posted: December 18, 2014 at 3:44 pm
Reading the human genome with machine learning
Professor Brendan Frey of The Edward S. Rogers Sr. Department of Electrical Computer Engineering and his team have developed the first method for #39;ranking #39; genetic mutations based on...
By: ECE UofT
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Reading the human genome with machine learning - Video
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Canadians reveal 'Rosetta Stone' for human genome
Posted: at 3:44 pm
Canadian researchers have developed a computer program that could prove the Rosetta Stone of genome researchand one day translate the building blocks of everything from cancer to autism.
Scientists have had a map of the genome essentially the recipe behind each humans DNA since 2003, when the multi-billion-dollar global Human Genome Project wrapped up. But theres still no proven method to read the entire genome. Scientists have mostly understood bits and pieces that affect one specific disease until now.
Most people focus on a single disease, said Brendan Frey, a University of Toronto engineering professor and lead researcher of the new study, in an interview. Our approach is to figure out how to read the genome. If you can read the genome, then you can understand all diseases.
Babak Alipanahi, Hannes Bretschneider, Brendan Frey and Hui Xiong discuss how the splicing code is used to understand disease mutations. (Jennifer Wilson/University of Toronto)
That research, titled The human splicing code reveals new insights into the genetic determinants of disease, appears today in the journal Science, but Canada.com was provided a sneak peak of the potentially groundbreaking discovery.
Before the Rosetta Stone, ancient historians could read a couple hieroglyphs or Egyption words; after it was discovered, they could understand all of it. This discovery is similar: Frey describes the genome like a recipe book and his work as a translator to help understand whether the mix-up occurred in the ingredients or the instructions so it could be prevented or better treated down the line.
Freys use of machine learning (essentially a form of artificial intelligence that makes predictive findings based on existing data) could revolutionize how researches parse the genome and how we think about and treat disease.
To prove that the computation model works, his team applied it to investigate the causes autism, colon cancer and spinal muscular atrophy, the leading cause of infant mortality. What they found not only proved the theory that the whole genome must be examined to understand its parts, but the researchers already made new breakthroughs. They discovered 39 new genes that contribute to or cause autism.
This is a very significant paper in showing that tools like this can be used to find relevant variation in the genome, said Robert Ringle of Autism Speaks, an organization that raises funds for autism research. The way researchers looked at the genome previously only looked at small parts of it. Technology has really limited the field for a number of years. Now, whole genome sequencing allows researchers to look at, in a cost effective way, every letter in the genome, Ringle said, referring to the new research released today. In that code there are going to be answers to what causes diseases, but you need something to decode that to understand.
And thats precisely what Freys team sought to achieve.
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Canadians reveal 'Rosetta Stone' for human genome
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