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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Үндсэн зохиолчид:	Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2024-02-01
Цуврал:	Human Genomics
Нөхцлүүд:	De novo mutations (DNMs) Genetic disease Development Neurodevelopmental disorders Psychiatric disorders Autism spectrum disorder
Онлайн хандалт:	https://doi.org/10.1186/s40246-024-00587-8
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!