Journal of Proteomics & Bioinformatics
Open Access

Hatim Aboalsamh

Publications

• Research Article
  A Classification Approach for Genome Structural Variations Detection
  Author(s): Eman A Alzaid, Achraf El Allali and Hatim Aboalsamh Eman A Alzaid, Achraf El Allali and Hatim Aboalsamh
  
  Background: Finding accurate genome structural variations (SVs) is important for understanding phenotype diversity and complex diseases. Limited research using classification to find SVs from next-generation sequencing is available. Additionally, the existing algorithms are mainly dependent on an analysis of the alignment signatures of paired-end reads for the prediction of different types of variations. Here, the candidate SV regions and their features are computed using single reads only. Classification is used to predict the variation types of these regions. Results: Our approach utilizes reads with multi-part alignments to define a possible set of SV regions. To annotate these regions, we extract novel features based on the reads at the breakpoints. We then build three random forest classifiers to identify regions with deletions, inversions.. View More»
  DOI: 10.4172/0974-276X.1000488

  Abstract PDF

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