Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges
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DOI: 10.3390/diagnostics13050860
Abstract: Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal… read more here.
Keywords: diagnostics chances; prenatal diagnostics; chances challenges; implementation exome ... See more keywords
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders
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DOI: 10.3390/genes14040813
Abstract: Neurological disorders (ND) are diseases that affect the brain and the central and autonomic nervous systems, such as neurodevelopmental disorders, cerebellar ataxias, Parkinson’s disease, or epilepsies. Nowadays, recommendations of the American College of Medical Genetics… read more here.
Keywords: sequencing clinical; neurological disorders; implementation exome; clinical practice ... See more keywords