Researchers at EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new machine learning method called SAVANA that significantly reduces sequencing errors for cancer genomes. Long-read ...

PacBio (NASDAQ: PACB), developer of the world's most advanced sequencing technologies, today announced CiFi, a new community-developed method that enables chromosome-scale, haplotype-resolved genome ...

Subtle disruptions in noncoding genomic regions frequently drive Mendelian diseases by altering chromatin architecture, regulatory activity, and other molecular pathways. However, most chromatin ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a Perspective article published in Nature Genetics, researchers at Karolinska ...

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, ...

Shareef A. Nahas brings deep expertise in genomics and laboratory operations, with senior leadership experience at Rady Children’s Institute for Genomic Medicine, Genoptix (Novartis), and Ambry ...

PacBio has announced its participation in the 1000 Genomes Long Read Sequencing Project, contributing long-read transcriptome data to enhance this significant human genomics initiative. Through ...

Immunotherapy has been a revolutionary breakthrough for cancer therapeutics, but it is still hampered in that it only benefits certain patients. Moreover, the molecular determinants of immunotherapy ...

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric ...

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, ...