Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed ...

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 ...

Cornell researchers have found that a new DNA sequencing technology can be used to study how transposons move within and bind to the genome. Transposons play critical roles in immune response, ...

Fast functional testing of genetic variants, from newborn genomes to disease models like zebrafish, is transforming ambiguous DNA findings into confident, real‑time treatment decisions.

Genome editing using CRISPR/Cas9 "gene scissors" is a powerful tool for biological discovery and for identifying novel drug targets. In pooled CRISPR screens, a large number of cells are edited ...

What is Third-Generation Sequencing? Third-generation sequencing, also known as long-read sequencing, refers to the latest advancements in DNA sequencing technologies that enable the analysis of ...

PacBio has announced a new study published in Nature Communications that presents an innovative method for analyzing complex regions of the human genome, particularly segmental duplications that have ...

In a breakthrough that redefines both speed and clinical potential, a new world record for the fastest human whole genome sequencing has been set. Think of all the things that can be done in four ...

Every living organism has its own genetic "blueprint": the source code for how it grows, functions and reproduces. This blueprint is known as a genome. When scientists sequence a genome, they identify ...