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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Vydáno v:J Clin Transl Sci
Hlavní autoři: Ward, Alistair N., Velinder, Matt, Miller, Chase, Di Sera, Tony, Qiao, Yi, Viskochil, Dave, Marth, Gabor
Médium: Artigo
Jazyk:Inglês
Vydáno: Cambridge University Press 2018
Témata:
Biomedical Informatics/Health Informatics
On-line přístup: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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