Application of full-genome analysis to diagnose rare monogenic disorders

Application of full-genome analysis to diagnose rare monogenic disorders

Abstract Current genetic testenhancer and narrows the diagnostic intervals 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 bre...

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Bibliographic Details
Main Authors: Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-021-00241-5

Internet

https://doi.org/10.1038/s41525-021-00241-5

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