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

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

Abstract 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...

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Bibliographic Details
Main Authors: Trenell J. Mosley, H. Richard Johnston, David J. Cutler, Michael E. Zwick, Jennifer G. Mulle
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Copy number variants
Meiotic recombination
Parent of origin
3q29 deletion
Online Access:https://doi.org/10.1186/s12920-021-00999-8

Internet

https://doi.org/10.1186/s12920-021-00999-8

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