fragile X syndrome

The researchers studied edits generated by more than 40,000 gRNAs and gathered data for more than 109 mutational outcomes to create the software.

Asuragen's technology will be used in the Early Check study to identify children with rare health conditions, such as fragile X syndrome, before symptoms appear.

Whitehead Institute researchers were able to restore nearly full FMR1 expression in a fragile X syndrome iPSC cell line.

Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.

An Australian couple settles with IVF clinic after their sons inherit disease the mother was told she wasn't a carrier for, the Sydney Morning Herald reports.

Australian researchers call for carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy, Cosmos reports.

Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.

Researchers used the approach to develop an assay to detect above-threshold triplet repeats in Huntington's disease, but also highlight a variety of other applications.

Under the collaboration, Asuragen will develop diagnostic kits for analyzing repeat sequences using Thermo Fisher's 3500 Dx Series Genetic Analyzer CS2 instrument.

Under a five-year NIH grant, the researchers will evaluate whether earlier diagnosis of fragile X and SMA leads to earlier intervention and improved outcomes.

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An artificial intelligence-based analysis suggests a third group of ancient hominins likely interbred with human ancestors, according to Popular Mechanics.

In Science this week: reduction in bee phylogenetic diversity, and more.

The New York Times Magazine looks into paleogenomics and how it is revising what's know about human history, but also possibly ignoring lessons learned by archaeologists.

The Economist reports on Synthorx's efforts to use expanded DNA bases they generated to develop a new cancer drug.