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Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders

BACKGROUND: Structural rearrangements of the genome, which generally occur during meiosis and result in large-scale (> 1 kb) copy number variants (CNV; deletions or duplications ≥ 1 kb), underlie genomic disorders. Recurrent pathogenic CNVs harbor similar breakpoints in multiple unrelated individ...

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Detalles Bibliográficos
Autores principales: Mosley, Trenell J., Johnston, H. Richard, Cutler, David J., Zwick, Michael E., Mulle, Jennifer G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8190997/
https://www.ncbi.nlm.nih.gov/pubmed/34107974
http://dx.doi.org/10.1186/s12920-021-00999-8