Background: According to recent estimates, around 30 million people have taken Direct-to-Consumer DNA ancestry tests, typically marketed as a fun, harmless and exciting process of discovery. These tests estimate a user's ethnic ancestry, also matching users with biological relations on their database. This matching can produce a surprising 'not parent expected' discovery, where a user learns that an assumed parent (typically the father) is not a biological parent.
View Article and Find Full Text PDFRecognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied the potential of objective facial phenotyping in discriminating between Mendelian and multifactorial ASD. In a cohort of 152 ASD patients, 3D facial images were used to calculate three metrics: a computational dysmorphism score, a computational asymmetry score, and an expert dysmorphism score.
View Article and Find Full Text PDFThe remote monitoring of vital signs via wearable devices holds significant potential for alleviating the strain on hospital resources and elder-care facilities. Among the various techniques available, photoplethysmography stands out as particularly promising for assessing vital signs such as heart rate, respiratory rate, oxygen saturation, and blood pressure. Despite the efficacy of this method, many commercially available wearables, bearing Conformité Européenne marks and the approval of the Food and Drug Administration, are often integrated within proprietary, closed data ecosystems and are very expensive.
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