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 ...

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 cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

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 ...

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 ...

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

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 ...

November 20, 2024 – Genome Research (https://genome.org) publishes a special issue highlighting advances in long-read sequencing applications in biology and medicine. In this first of two Special ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...