Application of full-genome analysis to diagnose rare monogenic disorders

Current genetic tests for rare diseases provide a diagnosis in only a modest proportion of cases. The Full-Genome Analysis method, FGA, combines long-range assembly and whole-genome sequencing to detect small variants, structural variants with breakpoint resolution, and phasing. We built a variant p...

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Detalles Bibliográficos
Autores principales: Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460793/
https://www.ncbi.nlm.nih.gov/pubmed/34556655
http://dx.doi.org/10.1038/s41525-021-00241-5

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