Long read sequencing revealed more genetic information in cases of 42 patients with rare diseases while cutting time and cost of diagnoses.

UC Santa Cruz researchers showcase how long-read sequencing can diagnose rare genetic diseases in days instead of years.

In recent years, scientific advancements have transformed our understanding of diseases, particularly at the cellular level.

Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS) has the potential to expedite rare disease diagnoses with a single test and at a ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

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.

Our results demonstrated an example where long-read sequencing was capable of accurately resolving complex breakpoints for inversions. Haplotype identification of chromosomes is of great importance to ...

while one rare case of Leydig cell hypoplasia affected male sexual development due to underdeveloped Leydig cells in the testes. Additionally, four cases of neurodevelopmental disorders, each ...

Recent syngnathid genome assemblies revealed suggestive gene content differences and provided the opportunity for detailed genetic analyses. We created a single-cell RNA sequencing atlas of Gulf ...

After isolation of cells from the four areas of tissues, a 10 × Genomics Single Cell v2 kit was used for sequencing library preparation per the manufacturer’s ... Paraffin-embedded tissues can be ...

scplotter is an R package that is built upon plotthis. It provides a set of functions to visualize single-cell sequencing data in an easy and efficient way.