next-generation sequencing:
Category: carrier testing
Researchers have developed a screen that simultaneously detects mutations in 448 genes associated with severe childhood diseases, allowing potential parents to identify that they are at risk of passing on these diseases to their children. While scientific, logistical and ethical challenges remain, this is a first step towards reducing the scourge of genetic disease.
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Posted by Daniel MacArthur at 9:00 AM • 11 Comments •
Category: commercial genetic testing
Forbes' Matthew Herper argues that the long-awaited $1000 genome will never actually materialise, due to the overheads associated with medical interpretation. He's right, for those who plan to obtain their genomes through the traditional medical route. However, those with the motivation to take their genetic information into their own hands will be able to follow an alternative, and more affordable, path - and one that brings its own benefits.
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Posted by Daniel MacArthur at 10:10 AM • •
Category: next-generation sequencing
In yet another twist in the unfolding competition for the emerging whole-genome sequencing market, promising new sequencing company Ion Torrent has been purchased by Life Technologies for $375 million. The stage is now set for a truly impressive battle between four major players over the next twelve months.
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Posted by Daniel MacArthur at 5:45 PM • 4 Comments •
Category: next-generation sequencing
The long-awaited public stock offer from third-generation sequencing technology company Pacific Biosciences has finally arrived (here's the SEC filing, and coverage from Matthew Herper and GenomeWeb). PacBio has already raised almost US$400 million in venture capital, and aims to increase...
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Posted by Daniel MacArthur at 12:15 PM • 5 Comments •
Category: genomes unzipped
The first ever post on the new group blog I announced yesterday, Genomes Unzipped, is now live: it's Luke Jostins of Genetic Inference talking about the importance of sequencing for the future of personal genomics. Here's a taste:There is a...
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Posted by Daniel MacArthur at 10:30 AM • 2 Comments •
Category: next-generation sequencing
Sequencing giant Illumina has announced a stunning price drop for its retail whole-genome sequencing service. It's still not cheap, at $19,500, but it sets the scene for a price war that will ultimately benefit all of us interested in affordable genome sequencing.
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Posted by Daniel MacArthur at 7:00 PM • 5 Comments •
Category: next-generation sequencing
Nick Loman (of the University of Birmingham, and the Pathogens: Genes and Genomes blog) has a post updating us on his survey of second-generation sequencing machines around the world. Loman's results are also available in the format of a handy...
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Posted by Daniel MacArthur at 7:30 AM • 5 Comments •
Category: next-generation sequencing
Actor Glenn Close has had her complete genome sequenced by technology company Illumina. The company has also announced upcoming improvements to its sequencing service, hinting at some strong competition ahead between Illumina and sequencing provider Complete Genomics. That's good news for those of us waiting to get our own genomes sequenced.
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Posted by Daniel MacArthur at 9:30 AM • 14 Comments •
Category: agbt
Dan Koboldt has a very nice recap of the various sequencing technologies presented at last week's Advances in Genome Biology and Technology meeting. I totally agree with his central point:Something had been bothering me about the sequencing-company presentations this year,...
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Posted by Daniel MacArthur at 6:15 AM • 2 Comments •
Category: agbt
Two brand new players in next-generation sequencing technology revealed their cards at this week's Advances in Genome Biology and Technology meeting.
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Posted by Daniel MacArthur at 11:00 AM • •
