A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature

Abstract Despite an explosive growth of next‐generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software tools that prioritize genes based on patient symptoms using known gene‐disease associations may complement variant filtering and interpr...

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Bibliographic Details
Main Authors: K. Joeri van derVelde, Sander van denHoek, Freerk vanDijk, Dennis Hendriksen, Cleo C. vanDiemen, Lennart F. Johansson, Kristin M. Abbott, Patrick Deelen, Birgit Sikkema‐Raddatz, Morris A. Swertz
Format: Article
Language:English
Published: Wiley 2020-12-01
Series:Advanced Genetics
Subjects:
benchmark
command‐line
gene prioritization
genome diagnostics
next‐generation sequencing
patient symptoms
Online Access:https://doi.org/10.1002/ggn2.10023

Internet

https://doi.org/10.1002/ggn2.10023

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