Search Results - "Josyula, Navya S."
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A genome-wide association study of polycystic ovary syndrome identified from electronic health records
Published in American journal of obstetrics and gynecology (01-10-2020)“…Polycystic ovary syndrome is the most common endocrine disorder affecting women of reproductive age. A number of criteria have been developed for clinical…”
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Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records
Published in BMC medical genomics (25-07-2020)“…Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health…”
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Healthcare Utilization and Patients' Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia
Published in Circulation. Genomic and precision medicine (01-08-2018)“…The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited…”
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Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
Published in Nature medicine (01-01-2021)“…The clinical impact of rare loss-of-function variants has yet to be determined for most genes. Integration of DNA sequencing data with electronic health…”
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