The Wikipedia page (http://en.wikipedia.org/wiki/FASTQ_format) on the FASTQ format is quite informative You can find more information on the 1,000 Genomes Project at http://www.1000genomes.org/ Information about the Phred quality score can be found at http://en.wikipedia.org/wiki/Phred_quality_score Illumina provides a good introduction page to paired-end reads at https://www.illumina.com/science/technology/next-generation-sequencing/paired-end-vs-single-read-sequencing.html The paper Computational methods for discovering structural variation with next-generation sequencing from Medvedev et al on nature methods (http://www.nature.com/nmeth/journal/v6/n11s/abs/nmeth.1374.html); note that this is not open access