ஜர்னல் ஆஃப் புரோட்டியோமிக்ஸ் & பயோ இன்ஃபர்மேடிக்ஸ்
திறந்த அணுகல்

சுருக்கம்

DMWAS: Feature Set Optimization by Clustering, Univariate Association, Deep and Machine Learning Omics Wide Association Study for Biomarkers Discovery as Tested on GTEx Pilot Dataset for Death Due to Heart-Attack

Abhishek Narain Singh

Univariate and multivariate methods for association of the genomic variations with the end-or-endo-phenotype have been widely used for genome wide association studies. In addition to encoding the SNPs, we advocate usage of clustering as a novel method to en-code the structural variations, SVs, in genomes, such as the deletions and insertions polymorphism (DIPs), Copy Number Variations (CNVs), translocation, inversion, etc., that can be used as an independent feature variable value for downstream computation by artificial intelligence methods to predict the endo-or-end phenotype. We introduce a clustering based encoding scheme for structural variations and omics based analysis. We conducted a complete all genomic variants association with the phenotype using deep learning and other machine learning techniques, though other methods such as genetic algorithm can also be applied. Applying this encoding of SVs and one-hot encoding of SNPs on GTEx V7 pilot DNA variation dataset, we were able to get high accuracy using various methods of DMWAS, and particularly found logistic regression to work the best for death due to heart-attack (MHHRTATT) phenotype. The genomic variants acting as feature sets were then arranged in descending order of power of impact on the disease or trait phenotype, which we call optimization and that also uses top univariate association into account. Variant Id P1_M_061510_3_402_P at chromo-some 3 and position 192063195 was found to be most highly associated to MHHRTATT. We present here the top ten optimized genomic variant feature set for the MHHRTATT phenotypic cause of death.