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Article

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

Human genomics - 23 Feb 2024

Lopes-Marques Mónica, Mort Matthew, Carneiro João, Azevedo António, Amaro Andreia P, Cooper David N, Azevedo Luísa

Abstract excerpt

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 role in the causation of genetic disorders, and their importance in the context of molecular diagnostic medicine has become...

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Identifiers

PMID: 38395944
DOI: 10.1186/s40246-024-00587-8
PMCID: PMC10885371

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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