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.

BIOESOnet: A Tool for the Generation of Personalized Human Metabolic Pathways from 23andMe Exome Data

Russo, Giulia;Tomasello, Barbara;Favetta, Marco;Renis, Marcella;Pappalardo, Francesco
Supervision
2018

Abstract

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.
9783319959320
Autism Spectrum Disorders (ASD); Exome; Pathway; Scalable Vector Graphics (SVG); Single Nucleotide Polymorphism (SNP); Whole Exome Sequencing (WES); Theoretical Computer Science; Computer Science (all)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/20.500.11769/334962
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