DocumentCode
3199715
Title
eXtasy simplified-towards opening the black box
Author
Popovic, Dusan ; Sifrim, Alejandro ; Moreau, Yves ; De Moor, Bart
Author_Institution
Dept. of Electr. Eng., KU Leuven, Leuven, Belgium
fYear
2013
fDate
18-21 Dec. 2013
Firstpage
24
Lastpage
28
Abstract
Exome sequencing remarkably simplifies the search for mutations causing rare monogenic disorders. Still, due to a big number of potential candidate variants, computational methods are needed to facilitate this process. Recently, an algorithm based on genomic data fusion has been proposed in this context (eXtasy), which exhibits highly competitive performances among the state of the art methods. Nonetheless, being based on a Random Forest classifier, its core model is characterized by a prohibitive size, slow execution speed and difficulties associated with gaining insights in the decision-making process. Here we propose a simplification of the original eXtasy algorithm that retains superior ranking capability of former without suffering from the both high complexity and low interpretability.
Keywords
bioinformatics; decision making; genomics; learning (artificial intelligence); pattern classification; sensor fusion; decision-making process; eXtasy algorithm; exome sequencing; genomic data fusion; mutations; random forest classifier; Bioinformatics; Classification algorithms; Context; Data integration; Decision support systems; Genomics; Sequential analysis; decision trees; eXtasy; genomic data fusion; hybrid sequential system; interpretable model; random forest; rare genetic disorders; variant prioritization;
fLanguage
English
Publisher
ieee
Conference_Titel
Bioinformatics and Biomedicine (BIBM), 2013 IEEE International Conference on
Conference_Location
Shanghai
Type
conf
DOI
10.1109/BIBM.2013.6732713
Filename
6732713
Link To Document