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 ...
Medical Xpress

Long-read sequencing successfully uncovers genetic causes of rare diseases

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, ...
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

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 ...
Nature

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis

Chromosomal microarray (CMA) was performed using a SurePrint G3 Agilent Human Genome CGH Microarray 4 × 180k (Agilent Technologies, Santa Clara, California, USA). This platform is a high-resolution ...
Nature

Long-read RNA sequencing dataset of human pancreatic cancer cell lines

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 Scientist

Advances in Long-Read Sequencing Boost Epigenomic Research

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

Combining long- and short-read sequencing in single cells reveals new mRNAs in neurodegenerative diseases

Researchers have combined two sequencing technologies in single cells to find new differences in mRNAs resulting from Alzheimer's disease, dementia with Lewy bodies and Parkinson's disease. Diseases ...
Kaleido Scope

Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak

Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...
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 ...