Priyank Shukla

Baylor Genetics

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Enhancing Molecular Diagnostics of Mendelian Disorders with AI-MARRVEL: A Knowledge-Driven Artificial Intelligence Approach

Number of pages: 30 Posted: 06 Jun 2023
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole Deisseroth, Sasidhar Pasupuleti, Seon Young Kim, Lucian Li, Jill Anne Rosenfeld, Linyan Meng, Lindsay Catherine Burrage, Michael Francis Wangler, Shinya Yamamoto, Michael Santana, Victor Perez, Priyank Shukla, Brendan Lee, Bo Yuan, Fan Xia, Hugo Bellen, Pengfei Liu and Zhandong Liu
Baylor University - Department of Pediatrics, Baylor University - Jan and Dan Duncan Neurologic Research Institute, Baylor University - Jan and Dan Duncan Neurologic Research Institute, Baylor University - Department of Pediatrics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Pediatrics, Baylor University - Department of Pediatrics, Baylor University - Department of Pediatrics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor Genetics, Baylor Genetics, Baylor Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics, Baylor College of Medicine - Department of Molecular and Human Genetics, Baylor University - Department of Molecular and Human Genetics and Baylor University - Department of Pediatrics
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Abstract:

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laboratory genetic diagnosis, clinical genetic diagnosis, rare disease, machine learning, knowledge-based AI, exome sequencing