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Mendelian gene identification through mouse embryo viability screening.
(2022-10-13)
BACKGROUND: The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated ...
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
(Wiley, 2022-07-24)
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ...
Improving prenatal diagnosis through standards and aggregation.
(2024-04)
Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical ...