A holistic approach to maximise diagnostic output in trio exome sequencing

A holistic approach to maximise diagnostic output in trio exome sequencing

IntroductionRare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pare...

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Bibliographic Details
Main Authors: Sandra von Hardenberg, Hannah Wallaschek, Chen Du, Gunnar Schmidt, Bernd Auber
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Pediatrics
Subjects:
trioWES
CNV
GeneMatcher
re-evaluation
diagnostic odyssey
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1183891/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1183891/full

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