TY - GEN
T1 - BIOESOnet
T2 - 14th International Conference on Intelligent Computing, ICIC 2018
AU - Pennisi, Marzio
AU - Forzano, Gabriele
AU - Russo, Giulia
AU - Tomasello, Barbara
AU - Favetta, Marco
AU - Renis, Marcella
AU - Pappalardo, Francesco
N1 - Publisher Copyright:
© Springer International Publishing AG, part of Springer Nature 2018.
PY - 2018
Y1 - 2018
N2 - 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.
AB - 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.
KW - Autism Spectrum Disorders (ASD)
KW - Exome
KW - Pathway
KW - Scalable Vector Graphics (SVG)
KW - Single Nucleotide Polymorphism (SNP)
KW - Whole Exome Sequencing (WES)
UR - http://www.scopus.com/inward/record.url?scp=85052112411&partnerID=8YFLogxK
U2 - 10.1007/978-3-319-95933-7_42
DO - 10.1007/978-3-319-95933-7_42
M3 - Conference contribution
AN - SCOPUS:85052112411
SN - 9783319959320
T3 - Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
SP - 345
EP - 352
BT - Intelligent Computing Theories and Application - 14th International Conference, ICIC 2018, Proceedings
A2 - Jo, Kang-Hyun
A2 - Huang, De-Shuang
A2 - Zhang, Xiao-Long
PB - Springer Verlag
Y2 - 15 August 2018 through 18 August 2018
ER -