2278: Identifying causative mutations in Treacher Collins syndrome using iobio

OBJECTIVES/SPECIFIC AIMS: The objective of the study was 2-fold; to identify potentially deleterious alleles in a child with Treacher Collins syndrome, and; to demonstrate the value of the iobio analysis platform for intuitively and rapidly analyzing genomic data. METHODS/STUDY POPULATION: We used t...

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Publicat a:J Clin Transl Sci
Autors principals: Ward, Alistair N., Velinder, Matt, Miller, Chase, Di Sera, Tony, Qiao, Yi, Viskochil, Dave, Marth, Gabor
Format: Artigo
Idioma:Inglês
Publicat: Cambridge University Press 2018
Matèries:
Biomedical Informatics/Health Informatics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6798973/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2017.64
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