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 ...
Science Daily

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

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...
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 ...
GEN

Long-Read Nanopore Sequencing Improves Rare Disease Diagnosis

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...
EurekAlert!

Study: New DNA-reading technology holds promise for rare disease research

Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found. The research will be presented at the Pediatric ...
Seeking Alpha

PacBio Collaborates with Leading Researchers to Establish Long-Read Variant Frequency Consortium

The Consortium Will Build a Publicly Available Database as a Resource to Accelerate Insights from Long-Read Human Genome Datasets MENLO PARK, Calif., Oct. 18, 2022 /PRNewswire/ -- PacBio (NASDAQ: PACB ...
Nasdaq

PACB Stock Declines Despite Promising HiFi Sequencing Findings

Pacific Biosciences of California, Inc. PACB recently announced a significant publication from Radboud University Medical Center (Radboudumc) and its research partners in the American Journal of Human ...
Phgfoundation

Metagenomic sequencing in public health – can long read sequencing be used to tackle antimicrobial resistance?

Antimicrobial resistance (AMR) is one of the greatest challenges facing health systems, causing an estimated 4.71 million deaths globally in 2021. It has been ten years since the World Health ...