• About Us
  • Contact Us
  • Cookie policy (EU)
  • Home
  • Privacy Policy
  • Video
  • Write for us
Today Headline
  • HOME
  • NEWS
    • POLITICS
    • News for today
    • Borisov news
  • FINANCE
    • Business
    • Insurance
  • Video
  • TECHNOLOGY
  • ENTERPRISE
  • LIFESTYLE
    • TRAVEL
    • HEALTH
    • ENTERTAINMENT
  • AUTOMOTIVE
  • SPORTS
  • Travel and Tourism
  • HOME
  • NEWS
    • POLITICS
    • News for today
    • Borisov news
  • FINANCE
    • Business
    • Insurance
  • Video
  • TECHNOLOGY
  • ENTERPRISE
  • LIFESTYLE
    • TRAVEL
    • HEALTH
    • ENTERTAINMENT
  • AUTOMOTIVE
  • SPORTS
  • Travel and Tourism
No Result
View All Result
TodayHeadline
No Result
View All Result

Researchers generate the first complete, gapless sequence of a human genome

April 2, 2022
in Technology
0
Researchers generate the first complete, gapless sequence of a human genome
0
SHARES
6
VIEWS
Share on FacebookShare on Twitter


Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence. According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases. The work was done by the Telomere to Telomere (T2T) consortium, which included leadership from researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; University of California, Santa Cruz; and University of Washington, Seattle. NHGRI was the primary funder of the study.

Analyses of the complete genome sequence will significantly add to our knowledge of chromosomes, including more accurate maps for five chromosome arms, which opens new lines of research. This helps answer basic biology questions about how chromosomes properly segregate and divide. The T2T consortium used the now-complete genome sequence as a reference to discover more than 2 million additional variants in the human genome. These studies provide more accurate information about the genomic variants within 622 medically relevant genes.

“Generating a truly complete human genome sequence represents an incredible scientific achievement, providing the first comprehensive view of our DNA blueprint,” said Eric Green, M.D., Ph.D., director of NHGRI. “This foundational information will strengthen the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will empower genetic studies of human disease.”

The now-complete human genome sequence will be particularly valuable for studies that aim to establish comprehensive views of human genomic variation, or how people’s DNA differs. Such insights are vital for understanding the genetic contributions to certain diseases and for using genome sequence as a routine part of clinical care in the future. Many research groups have already started using a pre-release version of the complete human genome sequence for their research.

The full sequencing builds upon the work of the Human Genome Project, which mapped about 92% of the genome, and research undertaken since then. Thousands of researchers have developed better laboratory tools, computational methods and strategic approaches to decipher the complex sequence. Six papers encompassing the completed sequence appear in Science(link is external)along with companion papers in several other journals.

That last 8% includes numerous genes and repetitive DNA and is comparable in size to an entire chromosome. Researchers generated the complete genome sequence using a special cell line that has two identical copies of each chromosome, unlike most human cells, which carry two slightly different copies. The researchers noted that most of the newly added DNA sequences were near the repetitive telomeres (long, trailing ends of each chromosome) and centromeres (dense middle sections of each chromosome).

“Ever since we had the first draft human genome sequence, determining the exact sequence of complex genomic regions has been challenging,” said Evan Eichler, Ph.D., researcher at the University of Washington School of Medicine and T2T consortium co-chair. “I am thrilled that we got the job done. The complete blueprint is going to revolutionize the way we think about human genomic variation, disease and evolution.”

The cost of sequencing a human genome using “short-read” technologies, which provide several hundred bases of DNA sequence at a time, is only a few hundred dollars, having fallen significantly since the end of the Human Genome Project. However, using these short-read methods alone still leaves some gaps in assembled genome sequences. The massive drop in DNA sequencing costs comes hand-in-hand with increased investments in new DNA sequencing technologies to generate longer DNA sequence reads without compromising the accuracy.

Over the past decade, two new DNA sequencing technologies emerged that produced much longer sequence reads. The Oxford Nanopore DNA sequencing method can read up to 1 million DNA letters in a single read with modest accuracy, while the PacBio HiFi DNA sequencing method can read about 20,000 letters with nearly perfect accuracy. Researchers in the T2T consortium used both DNA sequencing methods to generate the complete human genome sequence.

“Using long-read methods, we have made breakthroughs in our understanding of the most difficult, repeat-rich parts of the human genome,” says Karen Miga, Ph.D., a co-chair of the T2T consortium whose research group at the University of California, Santa Cruz is funded by NHGRI. “This complete human genome sequence has already provided new insight into genome biology, and I look forward to the next decade of discoveries about these newly revealed regions.”

According to consortium co-chair Adam Phillippy, Ph.D., whose research group at NHGRI led the finishing effort, sequencing a person’s entire genome should get less expensive and more straightforward in the coming years.

“In the future, when someone has their genome sequenced, we will be able to identify all of the variants in their DNA and use that information to better guide their healthcare,” Phillippy said. “Truly finishing the human genome sequence was like putting on a new pair of glasses. Now that we can clearly see everything, we are one step closer to understanding what it all means.”

Many early-career researchers and trainees played pivotal roles, including researchers from Johns Hopkins University, Baltimore; University of Connecticut, Storrs; University of California, Davis; Howard Hughes Medical Institute, Chevy Chase, Maryland; and the National Institute of Standards and Technology, Gaithersburg, Maryland. The package of six papers reporting this accomplishment appears in today’s issue of Sciencealong with companion papers in several other journals.

For more, visit Genome.gov/T2T(link is external) and follow @Genome_gov(link is external).

COMMENTS: Let us know what you think via Twitter or Facebook

Related

Tags: CompletegaplessgenerategenomeHumanresearcherssequence
Previous Post

Hong Kong urges testing, Shanghai struggles under lockdown

Next Post

Womens Final Four 2022 – UConn senior trio saves Huskies season, national title hopes – ESPN

Related Posts

Solid-state memory in neuromorphic circuits
Technology

Solid-state memory in neuromorphic circuits

Schematic connection of two biological...

Read more
Open-source software gives a leg up to robot research
Technology

Open-source software gives a leg up to robot research

Quad-SDK is an open-source, full-stack...

Read more
AI-designed camera only records objects of interest while being blind to others
Technology

AI-designed camera only records objects of interest while being blind to others

Object class-specific imaging using a...

Read more
A symmetric unicycle with jumping reaction wheels
Technology

A symmetric unicycle with jumping reaction wheels

Credit: Geist et al. Researchers...

Read more
Graphene synapses advance brain-like computers
Technology

Graphene synapses advance brain-like computers

Credit: University of Texas at...

Read more
Load More
Next Post
Womens Final Four 2022 – UConn senior trio saves Huskies season, national title hopes – ESPN

Womens Final Four 2022 - UConn senior trio saves Huskies season, national title hopes - ESPN

  • Trending
  • Comments
  • Latest
Collapsed Doggy sex position promises clitoral stimulation for extra pleasure

Collapsed Doggy sex position promises clitoral stimulation for extra pleasure

Who are Liz Cheney’s children?

Six times actors really romped in sex scenes that make 365 DNI look tame

Six times actors really romped in sex scenes that make 365 DNI look tame

Jada Kai’s amazing rise to fame – from champion figure skater to famous porn star

Jada Kai’s amazing rise to fame – from champion figure skater to famous porn star

My partner has to pay more car insurance – because he was born outside the UK | Car insurance

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

Jobless rate falls further, to 48-year low

Jobless rate falls further, to 48-year low

Dodge’s Charger Daytona SRT Concept will make plenty of noise despite being an EV

Dodge’s Charger Daytona SRT Concept will make plenty of noise despite being an EV

About Us

Todayheadline the independent news and topics discovery
A home-grown and independent news and topic aggregation . displays breaking news linking to news websites all around the world.

Follow Us

Latest News

My partner has to pay more car insurance – because he was born outside the UK | Car insurance

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

My partner has to pay more car insurance – because he was born outside the UK | Car insurance

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

Tax cuts pledged by both Liz Truss and Rishi Sunak fanciful without spending cuts, economists warn

Jobless rate falls further, to 48-year low

Jobless rate falls further, to 48-year low

  • Real Estate
  • Education
  • Parenting
  • Cooking
  • NFL Games On TV Today
  • Travel and Tourism
  • Home & Garden
  • Pets
  • Privacy & Policy
  • Contact
  • About

© 2021 All rights are reserved Todayheadline

No Result
View All Result
  • Real Estate
  • Education
  • Parenting
  • Cooking
  • NFL Games On TV Today
  • Travel and Tourism
  • Home & Garden
  • Pets
  • Privacy & Policy
  • Contact
  • About

© 2021 All rights are reserved Todayheadline

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In

Add New Playlist