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1. 1. Identifying Pathogenic Amino Acid Substitutions in Human Proteins Using Deep Learning

   University essay from KTH/Skolan för kemi, bioteknologi och hälsa (CBH)

   Author : Alexander Kvist; [2018]
   Keywords : Bioinformatics; deep learning; proteomics; mutations; single nucleotide polymorphism; SNP; convolutional neural network; variant effect prediction;

   Abstract : Many diseases of genetic origin originate from non-synonymous single nucleotide polymorphisms (nsSNPs). These cause changes in the final protein product encoded by a gene. Through large scale sequencing and population studies, there is growing availability of information of which variations are tolerated and which are not. READ MORE