Billiontoone (NASDAQ:BLLN) used its presentation at the JPMorgan Healthcare Conference to highlight what management described as a “single molecule” next-generation sequencing platform that it ...
Genome wide association studies (GWASs) have identified numerous risk loci associated with prostate cancer, yet unraveling their functional significance remains elusive. Leveraging our high-throughput ...
Panelists discuss that, based on EMERALD trial data, elacestrant provides consistent clinical benefit in metastatic breast cancer regardless of ESR1 mutation allele frequency, supporting the use of ...
NEW YORK – Researchers at Yale and Rutgers universities have developed a fast method to detect rare disease-causing point mutations directly from blood. Using a novel amplification technology coupled ...
Down syndrome is caused by an extra copy of chromosome 21, which leads to a range of developmental differences. Researchers have long sought strategies to correct this duplication, because current ...
Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality in ...
Genetic variation and 3D chromatin structure have major roles in gene regulation. Due to challenges in mapping chromatin conformation with haplotype-specific resolution, the effects of genetic ...
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, ...