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Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes
2017
Scientific Reports
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed. Despite the high prevalence of the FX premutation and its effect on public health and family planning, most FX premutation carriers are unaware of their condition. Since genetic testing for the premutation is resource intensive, it is not practical to screen individuals
doi:10.1038/s41598-017-02682-4
pmid:28572606
pmcid:PMC5454004
fatcat:kfuc6dsr4faaxaoauv5bcqxoim