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DNA sequence features underlying large-scale duplications and deletions in human

Copy number variants (CNVs) may cover up to 12% of the whole genome and have substantial impact on phenotypes. We used 5867 duplications and 33,181 deletions available from the 1000 Genomes Project to characterise genomic regions vulnerable to CNV formation and to identify sequence features characte...

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Detalles Bibliográficos
Autores principales: Kołomański, Mateusz, Szyda, Joanna, Frąszczak, Magdalena, Mielczarek, Magda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365719/
https://www.ncbi.nlm.nih.gov/pubmed/35590085
http://dx.doi.org/10.1007/s13353-022-00704-0