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...

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Detalles Bibliográficos
Autores principales: Schuy, Jakob, Grochowski, Christopher M., Carvalho, Claudia M.B., Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
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

Internet

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

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