SORS: Genomic analysis pipeline: overview, challenges, and proposed solutions

Date: Monday, 15 October, 2018 – 12:00

Speakers: Idoia Ochoa, Assistant Professor University of Illinois at Urbana-Champaign (UIUC) IL, USA.

Venue: Campus Nord, Building C6, Room E-106

Abstract: In this talk we will give an overview of the genomic analysis pipeline, from data generation to its analysis. In doing so, we will identify the main challenges arising in the genomic setting. These include dealing with errors introduced during the sequencing process, designing state-of-the-art specialized compressors to deal with the ever-growing amount of genomic data being generated, as well as improving the accuracy of the current tools used for the analysis.

We will emphasize some of the efforts being carried out by the international community to design a standard under the International Standardization Organization (ISO), denoted MPEG-G, for genomic information representation. We will also introduce a new filtering tool intended to improve the accuracy of variant calling, the last step of the genomic analysis pipeline whose output is generally the starting point for analysis in the personalized medicine paradigm. We will conclude the talk with some thoughts of where the community is going and the challenges that we will face in the near future.