Tag

Pangenome

All articles tagged with #pangenome

biology3 months ago

Mapping Yeast Genomes to Predict Trait Variations and Mutations

This study assembled near telomere-to-telomere genomes for 1,086 yeast isolates, revealing extensive structural variation and gene content diversity, and demonstrated that structural variants are more frequently associated with phenotypic traits and exhibit greater pleiotropy than SNPs, significantly advancing our understanding of the genetic basis of phenotypic diversity in yeast.

science-and-technology2 years ago

"Revolutionizing Genetics: A New Era of Ethnic Diversity-Informed Healthcare"

The Human Pangenome Reference Consortium has created a more inclusive human reference genome by assembling genomic sequences of 47 individuals from around the world, revealing almost 120 million DNA base pairs previously unseen. By providing a more accurate representation of human genetic diversity, researchers can refine their understanding of the link between genes and diseases, accelerate clinical research, and ultimately help address health disparities. The pangenome is public and can be used by scientists around the world as a new standard human genome reference. The HPRC’s ultimate goal is to produce high-quality, nearly error-free genomes from at least 350 individuals from diverse populations by mid-2024.

science-and-technology2 years ago

"Human Pangenome Unveiled: Cataloguing Genetic Diversity for Ethnic Diversity-Informed Tests and Treatments"

Researchers have published a draft human ‘pangenome’ that captures more of human diversity than has been previously available. The international project aims to map the entirety of human genetic variation, to create a comprehensive reference against which geneticists will be able to compare other sequences. The draft pangenome represents a collection of sequences from a diverse selection of 47 people from around the globe, including individuals from Africa, the Americas, Asia and Europe. However, ethical considerations surrounding the effort to make genome research more inclusive have been highlighted.

science-and-technology2 years ago

"New Human Pangenome Reveals Greater Diversity in DNA"

Scientists have published a more accurate and inclusive edition of the human genome, called the "pangenome," which incorporates near-complete genetic sequences from 47 men and women of diverse origins, including African Americans, Caribbean Islanders, East Asians, West Africans, and South Americans. The pangenome could greatly expand the reach of personalized medicine and represents a crucial tool for scientists and clinicians hoping to identify genetic variations associated with disease. The architects of the project are continuing to add more population groups, with the goal of including at least 350 high-quality genomes that encompass the bulk of global human diversity.