P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients
Main Authors: | Matt Aruta, Jard Knoblauch, Tanaya Jadhav, Emily Xiong, Yue Xing, Laura Conlin, Ramakrishnan Rajagopalan |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
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Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424006733 |
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