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fragile X syndrome

The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.

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.

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The Hill reports President Donald Trump issued an executive directing federal agencies to cut the number of board and advisory committees they have.

The New York Times reports that researchers are combining tools to more quickly develop crops to feed a growing population and cope with shifting climates.

Scientists in Canada are looking to the UK's plan to sequence children with rare conditions for inspiration, the National Post reports.

In PNAS this week: copy number changes arose during polar bear evolution, genomic and transcriptomic analysis of the Siberian hamster, and more.