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Individuals with autism spectrum disorder who were younger or with a more severe condition were more likely to undergo genetic testing, a new analysis has found.
Researchers identified 34 episignatures that could be used for diagnostic testing and the interpretation of ambiguous genetic test results.
The firm's AmplideX Fragile X Dx and Carrier Screen Kit is intended to help diagnose fragile X syndrome and assess parental risk of having a child with the 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.
The US has sent its formal notice of withdrawal from the World Health Organization, according to the Wall Street Journal.
Science reports that a draft spending bill would increase the US National Institutes of Health budget by 13 percent.
The Harvard Crimson reports that Harvard and MIT are suing the Department of Homeland Security and ICE over the new international student visa policy.
In Nucleic Acids Research this week: algorithm to determine molecular sequence types and other microbial features, computational method to uncover R-loop structures, and more.