P621: Benchmarking phenotype-driven variant prioritization algorithms demonstrates low sensitivity for diagnosing rare Mendelian disorders in pediatric patients

Bibliographic Details
Main Authors: Matt Aruta, Jard Knoblauch, Tanaya Jadhav, Emily Xiong, Yue Xing, Laura Conlin, Ramakrishnan Rajagopalan
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774424006733