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

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 ...

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.

Traditional bisulfite sequencing damages DNA, while enzyme-based alternatives are inconsistent. A novel methylation analysis method, called UMBS-seq, has been published in Nature Communications.

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 ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare ...

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 ...

Cambridge, MA - Traditional bisulfite sequencing damages DNA, while enzyme-based alternatives are inconsistent. A novel methylation analysis method, called UMBS-seq, was published this week in Nature ...

Scientists at the USDA’s Agriculture Research Service have demonstrated the potential of a form of whole genome sequencing for the early detection of Salmonella on food contact surfaces. The research ...

In a single experiment, scientists can decipher the entire genomes of many patient samples, animal models or cultured cells. To fully realize the potential to study biology at this unprecedented scale ...