Journal of Computer Science & Systems Biology

Molecular Pathology, Pathology and Clinical Laboratory Medicine, King Fahad Medical City, Riyadh 11525, Saudi Arabia

Publications

• Research Article   
  Automating the Computational Analysis of Exome Sequencing Data: A Prototype Methodology to Overcome Bottlenecks Observed with Operator Driven Clinical Interpretation for Known Pathogenic Mutations
  Author(s): Shahid Mian*, Wafaa Al-Turaif, Abdullah Al-Nawfal, Mohammed Mudhish, Eissa Faqeih and Manar Samman
  
  Objective: Clinical exome sequencing produces between 90,000-100,00 variants per individual. Bottlenecks are manifested due to manual (operator based) interpretation of data. Given an increasing demand for genomic screening, automated computational methodologies are urgently required to meet both throughput and interpretation. Objective: determine if algorithms can be developed to identify and report specific pathogenic variants Methods: Clinical exome sequencing was performed on 961 individuals presented for diagnostic analysis to King Fahad Medical City (KFMC). Variant Call Format (VCF 4.2) files from each patient were used for algorithm development. Perl (v5.28.1) was used as the construct language. 137 known pathogenic variants were used as a search test bed. A 10-step procedural workflow was implemented to automate.. Read More»
  

  Abstract PDF