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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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| Veröffentlicht in: | BMC Med Genomics |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8190997/ https://ncbi.nlm.nih.gov/pubmed/34107974 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00999-8 |
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