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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease

BACKGROUND: Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the ‘untargeted’ human population, aggregated with the primary goal to facilitate the interpretation of clinically important variants. The presence of somatic variants in such...

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Detalles Bibliográficos
Autores principales:	Avramović, Vladimir, Frederiksen, Simona Denise, Brkić, Marjana, Tarailo-Graovac, Maja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Primary Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670043/ https://www.ncbi.nlm.nih.gov/pubmed/34906245 http://dx.doi.org/10.1186/s40246-021-00371-y

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