By linking early genetic probability with brain-behavioral trajectories, PROGRESS advances understanding of autism-related differences before clinical diagnosis and provides an empirically grounded foundation for ethical genomic newborn screening and optimized early developmental monitoring and intervention.
Nicolò Pini, L. Shuffrey, Kally C. O'Reilly Sparks et al.· Pediatric Research· 0 citations
The electronic MEdical Records and GEnomics (eMERGE) network successfully generated and returned comprehensive risk profiles using logic and data specific to 11 conditions in a secure and semi-automated fashion employing a customized REDCap database.
Jennifer Morse, M. He, Hana Bangash et al.· JAMIA Open· 0 citations
A machine learning algorithm called RankVar is developed to prioritize causative variants for rare diseases, based on clinical notes and genome/exome sequencing profiles, and may provide a useful framework for prioritizing variants in monogenic or oligogenic diseases.
Yuan Zhang, Mian Umair Ahsan, Peng Wang et al.· Genome Medicine· 1 citation
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