Human genome reboot better reflects global population

This "pangenome" achievement was announced two decades after the first sequencing of the human genome, a feat that transformed biomedical research by giving scientists a reference map to analyze DNA for clues about disease-related mutations.

The work, led by the international Human Pangenome Reference Consortium of scientists funded by the U.S. government's National Human Genome Research Institute , essentially was a reboot of the prior effort and solved a key deficiency - a failure to represent the genetic variations present among the world'sThe previous work had significant gaps and was based largely on a single person's DNA.

"Bottom line - what we're doing is retooling genomics to create a diverse, inclusive representation of human variation as the fundamental reference structure, and so mitigating bias. This is important if we want our research to benefit everyone equally," Paten said. "By building very high quality, almost complete references we're getting a better picture for how some of the most complex regions of the genome vary. Until now, the composition of these fast-evolving regions has been largely invisible to us," Paten said.

United States Latest News, United States Headlines

Similar News:You can also read news stories similar to this one that we have collected from other news sources.

Scientists announce rough draft of human pangenomeA collection of DNA that represents the genetic information from 47 individuals, the pangenome dramatically expands upon the original human genome reference.
Source: NBCNewsHealth - 🏆 707. / 51 Read more »

How Scientists Identified the Remains of the Romanovs🔄FROM THE ARCHIVE: DNA analysis was the key to unraveling the mystery of what happened to Russia's fallen royal family.
Source: DiscoverMag - 🏆 459. / 53 Read more »

Scientists disagree with NASA on the future of the New Horizons mission'We need to finish the Kuiper Belt' after 'finally' getting a spacecraft there, the New Horizons principal investigator said.
Source: IntEngineering - 🏆 287. / 63 Read more »

Scientists raise concerns about popular COVID disinfectantsThe COVID-19 pandemic has boosted the unnecessary use of antimicrobial chemicals linked to health problems, antimicrobial resistance, and environmental harm, warn more than two dozen scientists in Environmental Science & Technology.
Source: physorg_com - 🏆 388. / 55 Read more »

Scientists Use Nanoparticles To “Peel Back the Curtain” Into the World of Super-Small ThingsPhysicists at The Australian National University (ANU) are using nanoparticles to create innovative light sources that will allow us to “peel back the curtain” into the world of extremely tiny objects - objects that are thousands of times smaller than a human hair. This will lead to significant adva
Source: SciTechDaily1 - 🏆 84. / 68 Read more »