Genomic

Researchers at EPFL, led by Didier Trono, have developed a novel method to detect previously undetectable transposable elements (TEs) in the human genome, significantly expanding our knowledge of DNA composition. This discovery has profound implications for understanding genetic diseases and the genome’s response to various stresses.The human genome, a complex mosaic of genetic data essential for life, has proven to be a treasure trove of strange features. Among them are segments of DNA that can “jump around” and move…

As It Happens6:35How scientists tracked the 1,000 km journey of a woolly mammoth using its tuskWith nothing more than a tusk, researchers were able to track the 1,000 kilometre journey of a woolly mammoth that lived 14,000 years ago. "The fact that we can actually regenerate her movement, her place along a landscape … all comes from a few remains at this site gives us insight into behaviour of an animal that once existed and lived with ancestors of the first people here in Canada," Hendrik Poinar, an evolutionary…

Should all babies have their genomes sequenced at birth? The question has been hotly debated for the past 15 years. Unlocking the genome’s 3.2-billion-letter code promises understanding of both health and disease. But practical and ethical challenges loom large. We are now at a critical juncture. Multiple genomic newborn screening studies are launching worldwide—with cohort sizes ranging from 1,000 to 100,000 babies. These studies must not only show real health benefits for newborns, families and health care systems, but…

The National Institutes of Health’s assessment of 13 studies demonstrated the effectiveness of a “genotype-first” approach to patient care, particularly for identifying rare disorders. This approach helps discover new gene-disease relationships, expands known disorders’ symptomatology, and offers insights into newly described disorders. It also promotes a shift from reactive to predictive and preventative medicine. The researchers have proposed a framework for implementing this methodology, emphasizing broad genomic data…

The Human Pangenome Reference Consortium has made significant progress in creating a more inclusive human reference genome by assembling genomic sequences of 47 individuals from around the world. The original human reference genome was based on data from a single individual of African-European background, limiting its representation of genetic diversity. This new pangenome, which renders over 99% of each sequence with high accuracy, reveals almost 120 million DNA base pairs previously unseen. By providing a more accurate…

The new draft pangenome reference contains 47 genomes instead of just one, and will provide a much better point of comparison than the traditional reference to find and understand the differences in our DNA. Credit: National Human Genome Research InstituteScientists at the University of California, Santa Cruz, together with a consortium of researchers, have released a draft of the first human pangenome, which combines the genetic material of 47 individuals from diverse ancestral backgrounds to offer a more accurate…

Researchers from Texas A&M University have used the largest mammalian genomic dataset to track the evolutionary history of mammals, concluding that mammal diversification began before and accelerated after the dinosaur extinction. This study, part of the Zoonomia Project, could significantly impact human medicine and biodiversity conservation by aiding in the identification of genetic disease targets and the understanding of human trait evolution. Credit: Texas A&M UniversityThe research uses the genomes of 241…

The Zoonomia Project has documented the genetic diversity in 240 mammalian species, covering over 80% of mammalian families. By sequencing and aligning the genomes, the team has identified conserved genomic regions across species, highlighting areas that may be biologically significant, but do not code for proteins. Their research suggests that at least 10% of the human genome is functional, a tenfold increase on the portion that codes for proteins. The data has illuminated genetic variants potentially connected to…

Instead of just piecing together short bits of a genome through short-read genomic sequencing, EMBL researchers used long-read nanopore sequencing to gain a more comprehensive understanding of DNA mutation connected to a cancer genome. Credit: Joana Gomes Campos de Carvalho/EMBLResearchers seeking to gain deeper insights into the relationship between DNA mutations and cancer through genomics sequencing utilized a long-read approach to obtain a more comprehensive genomic view.New EMBL research shows that long-read genomic…

In the face of intense pressure and criticism from many in the scientific community, Chinese researchers today released a trove of new genetic data that may offer fresh clues to the origin of the COVID-19 pandemic. They also substantially revised a related study they first posted online 13 months ago to include this evidence, which some scientists say gives more credibility to the thesis that SARS-CoV-2 could have jumped into humans from raccoon dogs or other…