BIOESOnet: A Tool for the Generation of Personalized Human Metabolic Pathways from 23andMe Exome Data
The lowering of costs of whole exome sequencing (WES) services registered in the last two years has greatly increased the demand for managing different metabolic diseases, including autism spectrum disorders (ASD). WES allows the detection of a large part of exome single nucleotide polymorphisms (SNPs), whose expression can be in some cases modulated by epigenetics, life style and microbioma changes. However, such raw data usually needs to be manipulated in order to allow useful interpretation and analysis. We present BIOESOnet, a tool for the filtering and visualization of exome 23andMe raw data into a customized methylation pathway. The tool, available at: http://www.bionumeri.org/joomla/restricted-area/onecarbon-tool, enables a fast and extensive overview of possible mutations inside an extended metabolic pathway.
KeywordsExome Scalable Vector Graphics (SVG) Pathway Whole Exome Sequencing (WES) Autism Spectrum Disorders (ASD) Single Nucleotide Polymorphism (SNP)
The raw results of the sample used in this work, related to one child with ASD diagnosis, were donated to BiONuMeRi by parents who had spontaneously acquired 23andMe kit for exome analysis. Moreover, the authors wish to thank Dr. Guanglan Zhang for her helpful contribution.
MP: designed the tool, analysed data and wrote the manuscript. GF: designed the tool, analysed and provided data. GR: gave biological knowledge and wrote the manuscript. BT: gave biological knowledge and wrote the manuscript. MF: gave useful insights and wrote the manuscript. MR: supervised the whole project and drafted the manuscript. FP: supervised the whole project and drafted the manuscript.
- 1.Seidelmann, S.B., Smith, E., Subrahmanyan, L., Dykas, D., Ziki, M.D.A., Azari, B., et al.: Application of whole exome sequencing in the clinical diagnosis and management of inherited cardiovascular diseases in adults. Circ. Cardiovasc. Genet. 10(1), pii, e001573 (2017)Google Scholar
- 2.Saudi Mendeliome Group: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol. 16, 134 (2015)Google Scholar
- 4.van El, C.G., Cornel, M.C., Borry, P., Hastings, R.J., Fellmann, F., Hodgson, S.V., et al.: Whole-genome sequencing in health care: recommendations of the European society of human genetics. Eur. J. Hum. Genet. 21(6), 580–584 (2013)Google Scholar
- 7.Steinig, E.J., Neuditschko, M., Khatkar, M.S., Raadsma, H.W., Zenger, K.R.: NETVIEW P: a network visualization tool to unravel complex population structure using genome-wide SNPs. Mol. Biol. Resour. 16(1), 216–227 (2015)Google Scholar
- 12.Yasko, A.: Pathways to recovery, 3rd edn. Neurological Research Institute, Bethel (2009)Google Scholar