AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
J. Lieberwirth,Benjamin Büttner,3 Authors,R. Jamra
2022 · DOI: 10.1002/humu.24451
Human Mutation · 12 Citations
TLDR
Routine exome sequencing in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases, and automated and standardized assessment methods to prioritize candidates for matchmaking are needed.
Abstract
Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs. The field, therefore, requires automated and standardized assessment methods to prioritize candidates for matchmaking.