Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

Abstract Background De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replication. These spontaneous errors play a significant r...

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Bibliographic Details
Main Authors: Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Human Genomics
Subjects:
De novo mutations (DNMs)
Genetic disease
Development
Neurodevelopmental disorders
Psychiatric disorders
Autism spectrum disorder
Online Access:https://doi.org/10.1186/s40246-024-00587-8

Internet

https://doi.org/10.1186/s40246-024-00587-8

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