Next-generation genome sequencing pushes clinical research

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. 

When people talk about the $1,000 genome, they are not speaking about the whole genome, but the exons, the so-called coding regions of the genome. “Six years ago, I was spending $15,000 per exome sequence,” says Gholson Lyon, M.D., Ph.D., a genomic scientist working for the Cold Spring Harbor Laboratory. “Now that costs about $700.”

Whole genome sequencing is more expensive. “We are still not at the $1,000 genome in my opinion,” Dr. Lyon continues. “Almost everyone I’ve talked to is charging $1,500–2,000, and we pay $3,000 because that gets us 60× coverage of the genome, which we have shown is very important to recover small insertions and deletions in the genome ranging in size from 5 to 50 base pairs.”

Dr. Lyon, who studies rare but heritable medical diseases such as Ogden syndrome and TAF1 syndrome, believes that advances in next-generation sequencing technology—better software algorithms, improved methodologies, and lower costs—accelerate his work and the work of others conducting clinical research.

The standard advocated by Illumina, the industry giant, and other sequencing companies is a 30× genome, which means sequencing the genome enough to generate on average 30 reads aligned at each base pair. But according to Dr. Lyon, the 30× genome does not capture all the insertions and deletions.

Read full, original post: Pure Innovation Drives Clinical-Grade NGS

Outbreak
Outbreak Daily Digest
Biotech Facts & Fallacies
Talking Biotech
Genetics Unzipped
can you boost your immune system to prevent coronavirus spread x

Video: How to boost your immune system to guard against COVID and other illnesses

Scientists have recently developed ways to measure your immune age. Fortunately, it turns out your immune age can go down ...
mag insects image superjumbo v

Disaster interrupted: Which farming system better preserves insect populations: Organic or conventional?

A three-year run of fragmentary Armageddon-like studies had primed the journalism pumps and settled the media framing about the future ...
dead bee desolate city

Are we facing an ‘Insect Apocalypse’ caused by ‘intensive, industrial’ farming and agricultural chemicals? The media say yes; Science says ‘no’

The media call it the “Insect Apocalypse”. In the past three years, the phrase has become an accepted truth of ...
globalmethanebudget globalcarbonproject cropped x

Infographic: Cows cause climate change? Agriculture scientist says ‘belching bovines’ get too much blame

A recent interview by Caroline Stocks, a UK journalist who writes about food, agriculture and the environment, of air quality ...
organic hillside sweet corn x

Organic v conventional using GMOs: Which is the more sustainable farming?

Many consumers spend more for organic food to avoid genetically modified products in part because they believe that “industrial agriculture” ...
benjamin franklin x

Are most GMO safety studies funded by industry?

The assertion that biotech companies do the research and the government just signs off on it is false ...
gmo corn field x

Do GMO Bt (insect-resistant) crops pose a threat to human health or the environment?

Bt is a bacterium found organically in the soil. It is extremely effective in repelling or killing target insects but ...
favicon

Environmental Working Group: EWG challenges safety of GMOs, food pesticide residues

Known by some as the "Environmental Worrying Group," EWG lobbies for tighter GMO legislation and famously puts out annual "dirty dozen" list of fruits and ...
m hansen

Michael Hansen: Architect of Consumers Union ongoing anti-GMO campaign

Michael K. Hansen (born 1956) is thought by critics to be the prime mover behind the ongoing campaign against agricultural biotechnology at Consumer Reports. He is an ...
News on human & agricultural genetics and biotechnology delivered to your inbox.
Optional. Mail on special occasions.
Send this to a friend