Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

An individual’s genome is identifiable. But datasets of RNA sequences from single cells are like a blurry photocopy of the genome. The sequence numbers are small, the data are noisy, and the sequences ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed a new algorithm capable of building complete human genomes using standard ...

Cell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that ...

The first resource containing high-resolution DNA sequencing data for over 37,000 children and parents collected over multiple decades from across the UK is now available to researchers worldwide. The ...

The Epstein-Barr virus (EBV) can cause certain types of cancer or autoimmune diseases, but how the body controls this common viral infection is largely unknown. Researchers at the University Hospital ...

The Next Generation Sequencing (NGS) field has been in constant flux since a wave of newcomers entered the field several years ago that changed the game. The startups offered sequencing users new ...

NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

Researchers work in a mobile Fire-Eye laboratory in Beijing in June 2020. The labs can identify coronavirus infections, as well as decipher and analyze human DNA. (Fu ...