Metagenomics relies on the use of software programs called assemblers, which can reconstruct tens of thousands of individual ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

This illustration demonstrates how metapipeline-DNA processes raw genome sequencing data. It begins by aligning the sequence of DNA base pairs to a reference genome. Then produces sets of detected ...

Explore how advances in accuracy, throughput and cost are making long-read sequencing more accessible at scale.

NIH funding has allowed scientists to see the DNA blueprints of human life—completely. In 2022, the Telomere-to-Telomere Consortium, a group of NIH-funded scientists from research institutions around ...

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, ...

An international team of scientists, led by researchers from A*STAR's Genome Institute of Singapore (GIS) and the Bioinformatics Institute (BII), have developed SIFT 4G (SIFT for Genomes) - a software ...

The first human genome sequencing took 13 years and cost $3 billion. It can now be done in a matter of days, but drawing meaningful conclusions from millions of points of data is cumbersome. However, ...

The newest DNA sequencing technology from Swiss multinational Roche doesn’t measure DNA directly but in fact analyzes a different polymer altogether. The technology is not yet available for sale, but ...

A Targeted Methylation–Based Multicancer Early Detection Blood Test Preferentially Detects High-Grade Prostate Cancer While Minimizing Overdiagnosis of Indolent Disease Enzymatic conversion–mediated ...