Distinct sequence features underlie microdeletions and gross deletions in the human genome

Microdeletions and gross deletions are important causes (~20%) of human inherited disease and their genomic locations are strongly influenced by the local DNA sequence environment. This notwithstanding, no study has systematically examined their underlying generative mechanisms. Here, we obtained 42...

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Detalles Bibliográficos
Autores principales: Qi, Mengling, Stenson, Peter D., Ball, Edward V., Tainer, John A., Bacolla, Albino, Kehrer‐Sawatzki, Hildegard, Cooper, David N., Zhao, Huiying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069542/
https://www.ncbi.nlm.nih.gov/pubmed/34918412
http://dx.doi.org/10.1002/humu.24314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9069542/
https://www.ncbi.nlm.nih.gov/pubmed/34918412
http://dx.doi.org/10.1002/humu.24314

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