GEN

Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

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 ...
The Scientist

Sequencing Microbes with Greater Genomic Context

Learn how long-read sequencing supports characterization of complete microbial genomes and what to consider when selecting an ...
Medical Xpress

Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
Nature

Long read nanopore DNA sequencing with adaptive sampling to identify tyrosine kinase fusion genes

Structural variants (SV) that give rise to tyrosine kinase (TK) fusion genes are seen recurrently in myeloid neoplasms, specifically chronic myeloid leukaemia (CML), which is defined by the presence ...
Nature

Long-read RNA sequencing of transposable elements from single cells using CELLO-seq

Transposable elements (TEs) form 50% of the mammalian genome sequence, and their expression contributes to processes from development to disease. Owing to the abundance and high sequence similarity of ...
Medical Xpress

Machine learning algorithm brings long-read sequencing to the clinic

Long-read sequencing technologies analyze long, continuous stretches of DNA. These methods have the potential to improve researchers' ability to detect complex genetic alterations in cancer genomes.

Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often ...
The Scientist

The Revolution in DNA Sequencing Through the Ages

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

PacBio Joins 1000 Genomes Long Read Sequencing Project to Enhance Human Genomics Research

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 ...
News Medical

Long-read whole genome sequencing uncovers new genetic variants linked to autism

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...
EurekAlert!

Machine learning algorithm brings long-read sequencing to the clinic

Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...
Science Daily

Machine learning algorithm brings long-read sequencing to the clinic

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 ...