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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Hlavní autoři:	Sandra von Hardenberg, Hannah Wallaschek, Chen Du, Gunnar Schmidt, Bernd Auber
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2023-05-01
Edice:	Frontiers in Pediatrics
Témata:	trioWES CNV GeneMatcher re-evaluation diagnostic odyssey
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2023.1183891/full
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