Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders

The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yields in individuals with rare diseases, but its implementation in the daily routines of laboratories is limited due to restricted capacities. Here, we describe a systematic approach to re-analyse the ES...

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Bibliographic Details
Main Authors: Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, Maximilian Radtke, Tobias Helms, Julia Hentschel, Denny Popp, Rami Abou Jamra
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
re-analysis
exome sequencing
neurodevelopmental disorder
Online Access:https://www.mdpi.com/2073-4425/14/1/30

Internet

https://www.mdpi.com/2073-4425/14/1/30

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