Tag

Long Read Sequencing

All articles tagged with #long read sequencing

The 8% That Took 19 Years to Read: Completing the Human Genome
science1 month ago

The 8% That Took 19 Years to Read: Completing the Human Genome

The 2003 Human Genome Project declared the genome essentially finished, but about 8% remained unread, concentrated in centromeres, telomeres, and segmental duplications. In 2022 the Telomere-to-Telomere (T2T-CHM13) assembly delivered a gapless genome (except Y) using long-read sequencing, revealing complete centromeres and new sequence, including immune-related gene families. But it's a single reference genome, not the full human variation; the next milestone is a population-scale pangenome.

Mapping Yeast Genomes to Predict Trait Variations and Mutations
biology9 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.

Terabase-Scale Sequencing Uncovers New Soil Bacteria and Bioactive Molecules
science10 months ago

Terabase-Scale Sequencing Uncovers New Soil Bacteria and Bioactive Molecules

A soil metagenome was sequenced using terabase-scale long-read nanopore technology, leading to the assembly of hundreds of complete bacterial genomes and the discovery of novel biosynthetic gene clusters, including new antibiotics, demonstrating the power of long-read sequencing for exploring microbial dark matter and natural product potential.