Long-read RNA sequencing (RNA-seq) technologies have revolutionized transcriptomic research by enabling the sequencing of full-length RNA molecules, thus providing a more accurate characterization of ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

In just a few decades, DNA sequencing technologies evolved from slow, manual processes to rapid, automated ones, making ...

With the advent of accurate long reads—notably, Pacific Biosciences high-fidelity (PacBio HiFi) reads 4 —the latest generation of assembly algorithms has revolutionized de novo assembly 5,6,7. For ...

PacBio has announced its participation in the 1000 Genomes Long Read Sequencing Project, contributing long-read transcriptome data to enhance this significant human genomics initiative. Through ...

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska ...

Genomic DNA is organized into chromatin via nucleosomes, regulating its accessibility for critical biological processes such as transcription, replication, and epigenetic modification. The dynamic ...

November 20, 2024 – Genome Research (https://genome.org) publishes a special issue highlighting advances in long-read sequencing applications in biology and medicine. In this first of two Special ...

SAVANA uses a machine learning algorithm to identify cancer-specific structural variations and copy number aberrations in long-read DNA sequencing data. The complex structure of cancer genomes means ...

Panel A shows dereplicated reads from wastewater virome sequencing assigned to H5N1 from all samples with a validated H5N1 signal aligned to a recently collected H5N1 2.3.4.4b reference sequence ...

In a way, sequencing DNA is very simple: There's a molecule, you look at it, and you write down what you find. You'd think it would be easy—and, for any one letter in the sequence, it is. The problem ...