While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of ...

The idea for the LRGASP Consortium was originally discussed among scientists at a conference in 2019.

To understand more fully the role of RNA and its modifications in living systems, researchers will need robust, reproducible, and accessible tools and techniques capable of identifying all RNA ...

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, ...

Population genomics explores the genetic composition of groups of organisms to elucidate evolutionary processes, demographic history and adaptive variation. Advances in next-generation sequencing (NGS ...

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.

Every cancer carries a unique genetic fingerprint: variations in DNA known as “somatic variants” that occur in tumor DNA but are absent from the patient’s healthy cells. While some cancers may also ...

Rapid precision run-on sequencing (rPRO-seq) may help doctors understand disease states and treatment response in real time. Researchers at Sylvester Comprehensive Cancer Center (FL, USA) have ...

Sequencing has rapidly expanded researchers’ understanding of basic biological processes in both health and disease. As sequencing technology becomes ubiquitous, scientists take their research to new ...

Whole-genome sequencing of microbial isolates provides valuable information for public health, clinical microbiology research, food safety and microbial ecology. Nanopore sequencing offers distinct ...

Bacteria are among the most diverse lifeforms on Earth, so it’s no surprise that their genomes have yielded a treasure trove of fascinating discoveries. The study of bacterial genomes has led to the ...