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, ...
April 14, 2025 – Genome Research (https://genome.org) publishes a second special issue highlighting advances in long-read sequencing applications in biology and medicine. In this second Special Issue, ...
Whole-genome sequencing (WGS) has emerged as a widely applied tool in germline analyses, such as hereditary disease diagnostics and pharmacogenomics. As WGS increasingly transitions from research to ...
A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at ...
Scientists sequence hundreds of thousands of genomes for crucial large-scale research efforts, such as population genomics initiatives that process more than 10,000 samples per year, to explore ...
Today, genomics is saving countless lives and even entire species, thanks in large part to a commitment to collaborative and open science that the Human Genome Project helped promote. Twenty-five ...