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Complex genomic rearrangements: an underestimated cause of rare diseases
Complex genomic rearrangements (CGRs) are known contributors to disease but are often missed during routine genetic screening. Identifying CGRs requires (i) identifying copy number variants (CNVs) concurrently with inversions, (ii) phasing multiple breakpoint junctions in cis, as well as (iii) detec...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851044/ https://www.ncbi.nlm.nih.gov/pubmed/35820967 http://dx.doi.org/10.1016/j.tig.2022.06.003 |