International Bioinformatics Workshop

A 3 day (20-22 Dec 2014) International Bioinformatics Workshop was held at Sindh Institute of Urology and Transplantation - SIUT in collaboration with COMSTECH.

The workshop’s main objective was to present a hands-on approach to the online Ensembl bioinformatics resources and to introduce command line based options for analysis of whole genome sequencing data regarding biological research for students, post-doctoral fellows and teachers.

An introduction to the Ensembl Genome Browser with practical demonstrations and exercises using the human genome as reference was done. Analysis of high throughput genotyping and whole genome human sequencing data was also presented with overall aim of promoting the use of bioinformatics for health care research in the life sciences. Only human genomic sequencing data was analyzed during the training, whereas the same techniques can be used to analyze any data generated by next generation sequencing. The workshop introduced and trained researchers and clinicians in the use of internet resources to analyze the vast amount of genetic data produced through high throughput genomic sequencing. The advent of a genomic revolution in the last few years has made a number of discoveries possible in both the research and medical sciences arenas. The latest findings will deliver a great deal of benefits and improvements in the quality of life of the common man through personalized diagnosis and treatment. With the current genomic information it will be possible to predict and monitor one’s susceptibility to a particular disease or infection, therefore allowing for appropriate interventions to reduce painful and expensive diagnostic tests and treatments. The requirement for genetic tests to diagnose the disease and the increased accuracy of prescribing drugs that will be effective for a particular individual, will reduce expenses and increase the benefits for the suffering patients.

The workshop provided the expertise and updated knowledge for Pakistani researchers and physicians to translate the genetic approach to everyday clinical practice.

The instructors of the workshop included Dr. Qasim Ayub Staff Scientist, Wellcome Trust Sanger Institute, Hinxton, UK; Dr. Vincenza Colonna, Research Scientist, National Research Council, Institute of Genetics and Biophysics, Napoli, Italy; Dr. Luca Pagani Postdoctoral Fellow, Division of Biological Anthropology University of Cambridge, UK and Dr. Denise Carvalho-Silva (Virtual Lecturer) Ensembl Outreach Officer EMBL-European Bioinformatics Institute Hinxton, UK. An online lecture was also delivered by Dr. Giulietta Spudich Ensembl Outreach Project Leader, EMBL-European Bioinformatics Institute Cambridge, UK.

The focal person from SIUT was Dr. Syed Qasim Mehdi, HEC Distinguished National Professor at the centre for Human Genetics and Molecular Medicine SIUT.