alexa SM2PH-Central: Intelligent Integrative System For Comprehensive Analysis Of Human Diseases | 23260
ISSN: 2153-0645

Journal of Pharmacogenomics & Pharmacoproteomics
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

2nd International Conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics
November 03-05, 2014 Embassy Suites Las Vegas, USA

Hoan Nguyen
Accepted Abstracts: J Pharmacogenomics Pharmacoproteomics
DOI: 10.4172/2153-0645.S1.004
Abstract
Analysis of genetic variation is a major goal of biomedical research and disease studies, especially for the development of diagnostics and effective therapeutic solutions. Next generation sequencing technologies (NGS) are now used routinely to identify variations in individuals, families or populations. To achieve this, we developed a comprehensive knowledge discovery infrastructure SM2PH-CENTRAL for the analysis of genetic variations involved in human diseases, including an original ?big data? management system (BIRD), a knowledge base of annotated variants (MSV3d), a prediction service (KD4v) to estimate their phenotypic effects, and an original open-source framework (GEPETTO) is for gene prioritization on a desktop computer that ensures confidentiality of personal data. The complete software and data environment is available for local or distributed computing. Case studies identified novel mutations in rare diseases (ciliopathies, retinopathies). This development is part of an overall strategy aimed at the development of a transversal system to better understand and describe the networks of causality linking a particular phenotype, and one or various genes or networks. Our work helps elucidate the chain of events leading from a molecular defect to the associated pathology and thus represents an important step towards the practical application of translational medicine.
Biography
Hoan Nguyen is a big-data specialist at the Institute of Genetics and Molecular and Cellular Biology (IGBMC), France. He received a PhD degree in Applied Computer Science at the Strasbourg University, France in 2006. He subsequently joined the IGBMC where he works on projects related to automated annotation and prediction of genetic variants in human diseases, big-data design and large-scale computation. He is interested in the application of machine learning for the analysis of biomedical big-data and the extraction of biologically meaningful knowledge. He is responsible for SM2PH-Central framework. He is an author of 19 technical and scientific papers.
image PDF   |   image HTML
 

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version