QR-Code

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliografische Detailangaben
Hauptverfasser: Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2024-02-01
Schriftenreihe:Human Genomics
Schlagworte:
Online-Zugang:https://doi.org/10.1186/s40246-024-00587-8
Tags: Tag hinzufügen
Keine Tags, Fügen Sie das erste Tag hinzu!