Skip to Main content Skip to Navigation
Conference papers

Analysis of genomic data from high throughput sequencing: concepts and basic methods

Eric Rivals 1, *
* Corresponding author
1 MAB - Méthodes et Algorithmes pour la Bioinformatique
LIRMM - Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier
Abstract : When a reference genome is available, analysis of Next Generation Sequencing (NGS) reads require to determine the plausible genomic position(s) for all reads. This computational step is termed mapping. This lecture will provide an overview of underlying concepts of the mapping question, algorithms, and pitfalls: alignment, approximate motif searching, filtration, and indexing data structures (like the Burrows Wheeler Transform). The impact of the read length, the background mapping probability, or sequencing errors on the results will be illustrated. This will lead us to present the most current mapping algorithms and their limitations; the results of a comparison will be presented. The cases of genomic and transcriptomic data will be considered in this regard, and finally the question of efficiency will be addressed. In a second time, we will give a short overview of concepts for assembly methods.
Complete list of metadata
Contributor : Eric Rivals <>
Submitted on : Monday, June 10, 2013 - 11:09:46 PM
Last modification on : Thursday, May 24, 2018 - 3:59:22 PM


  • HAL Id : lirmm-00832551, version 1



Eric Rivals. Analysis of genomic data from high throughput sequencing: concepts and basic methods. Palaeogenomics Summer School, Oct 2011, Cargese, France. ⟨lirmm-00832551⟩



Record views