Three times a week, The Audio Long Read podcast brings you the Guardian’s exceptional longform journalism in audio form. Covering topics from politics and culture to philosophy and sport, as well as ...
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
RNA isoforms influence cell identity and function. However, a comprehensive brain isoform map was lacking. We analyze single-cell RNA isoforms across brain regions, cell subtypes, developmental time ...
Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an ...
The placenta is critical for fetal development and mediates effects of pregnancy complications on offspring metabolic health yet remains poorly characterized in genomic studies. Existing ...
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 ...
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 ...
Here, Aaron Wenger, Principal Scientist – Bioinformatics at PacBio (CA, USA), explores how advances in accuracy, throughput and cost are making long-read sequencing more accessible at scale. Advances ...
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 ...
Genomic DNA is organized into chromatin via nucleosomes, regulating its accessibility for critical biological processes such as transcription, replication, and epigenetic modification. The dynamic ...
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