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Domain: genome.gov
Stories and comments across the archive that link to genome.gov.
Stories · 8
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In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis (ieee.org)
the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby's entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: "We want to take humans out of the equation, because we're the bottleneck." -
The DNA Data Deluge
the_newsbeagle writes "Fast, cheap genetic sequencing machines have the potential to revolutionize science and medicine--but only if geneticists can figure out how to deal with the floods of data their machines are producing. That's where computer scientists can save the day. In this article from IEEE Spectrum, two computational biologists explain how they're borrowing big data solutions from companies like Google and Amazon to meet the challenge. An explanation of the scope of the problem, from the article: 'The roughly 2000 sequencing instruments in labs and hospitals around the world can collectively generate about 15 petabytes of compressed genetic data each year. To put this into perspective, if you were to write this data onto standard DVDs, the resulting stack would be more than 2 miles tall. And with sequencing capacity increasing at a rate of around three- to fivefold per year, next year the stack would be around 6 to 10 miles tall. At this rate, within the next five years the stack of DVDs could reach higher than the orbit of the International Space Station.'" -
Function of 80% of the Human Genome Charted
ananyo writes "In what is likely to be a historic moment in science, ENCODE, the Encyclopedia of DNA Elements, has published 30 papers in Nature, Genome Research and Genome Biology today, assigning some sort of function to roughly 80% of the genome, including more than 70,000 'promoter' regions — the sites, just upstream of genes, where proteins bind to control gene expression — and nearly 400,000 'enhancer' regions that regulate expression of distant genes. The project was designed to pick up where the Human Genome Project left off. Although that massive effort revealed the blueprint of human biology, it quickly became clear that the instruction manual for reading the blueprint was sketchy at best. Researchers could identify in its 3 billion letters many of the regions that code for proteins, but those make up little more than 1% of the genome, contained in around 20,000 genes. ENCODE, which started in 2003, aims to catalog the 'functional' DNA sequences between genes, learn when and in which cells they are active and trace their effects on how the genome is packaged, regulated and read. Nature has set up an ENCODE site with an explorer, that groups the papers by topic, and collects all the papers, which are available free." -
The Race To $1,000 Human Genome Sequencing
ericjones12398 writes "Just one decade ago, sequencing an entire human genome cost upwards of $10 million and took about three years to complete. Now, several companies are racing to provide technology that can sequence a complete human genome in one day for less than $1,000. 'A genome sequence for $1,000 was a pipe dream, just a few years ago,' said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, 'A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing." -
Corn Genome Sequenced
dooling writes "Later this week, the completion of the maize genome draft sequence will be announced. Maize has a large genome (slightly smaller than human) that is highly repetitive (about 80%). These facts made a whole-genome shotgun approach to sequencing infeasible. Therefore, a BAC-by-BAC approach was taken, similar to what was done for the Human Genome Project. Further work on the maize genome will focus on the parts of the genome that have genes, thereby avoiding the highly-repetitive regions of the genome (even though the maize genome is slightly smaller than human, it is thought to have about twice as many genes). You can read my take here." -
The 1000 Genomes Project
jd writes "An international consortium of specialists in genetics has announced the 1000 Genomes Project, in which at least 1,000 people from around the world will have their genomes fully sequenced as part of an effort to discover the relationship between genetics and disease. At present, over 100 regions of DNA are known to be related to illnesses, but the maps that exist are vague and are drawn from an extremely small population pool. According to the article, this results in the need for slow, expensive, and laborious studies to pinpoint causes, especially for rarer conditions. This project aims to find conditions that might only appear once in every 2,000 people (though how they intend to do that with half that number is unclear). The researchers hope to massively speed up the diagnosis of genetically linked illnesses and to improve the reliability of such diagnoses." -
'Bubble Boy' Cured by Gene Therapy in UK
DrKyle writes "Another child with "Bubble Boy" disease aka ADA-SCID (adenosine deaminase deficiency causing severe combined immunodeficiency) has been cured by transforming bone marrow stem cells with the functioning gene. Normally toxic levels of adenosine build up in T-cells killing off those important cells required for a robust immune system. While not the first person cured, another successful case of gene therapy goes a long way in encouraging goverments to continue to fund genetic research." -
Human Genome Count Betting Period Extended
appleLaserWriter writes "Genomic Scientists still don't know how many genes are in the Human Genome. While they continue to sequence and analyze DNA data Dr. Ewan Birney has opened has opened a betting pool where scientists can submit their best guess. The pool has been extended for a further five years, so the information technology opportunities for genomics can only continue to grow."