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Fictitious Example:

Title: Our Genomes for a few Euros: if only we had Known
Authors: Maxam, A (1).; Gilbert, W. (1); Sanger, F. (2)
Corresponding Author: Sanger, F.
Registration Number: 1234567
email: fs2009@sanger.ac.uk
Address:
1. Dept. of Chemistry, Harvard University, Boston, MA02115, USA;
2. Laboratory of Molecular Biology, University of Cambridge, Cambridge, CB2 0QH, UK.
Abstract:
New sequencing technology has always been a key to unravelling the most pressing question in human genetics, as in the rest of species. Traditionally, relatively long reads (~ 400 – 800 bp) obtained with Sanger technology have been used. However, recent developments have multiplied several fold the ouput while decreasing dramatically the price per base pair, although at the price of reducing the length of the reads. All together, formidable computational challenges lie ahead. To illustrate these techniques and the complexities of the analyses, we have obtained the complete sequence of our genomes utilizing next generation sequencing. For this purpose, we developed a new assembly and mutational discovery alignment based on a parallelized fast fourier transform. A comparison with latest human build, as well as comparisons between the genomes reported, revealed 2.99 million SNPs, 20,000 of them unreported to date, as well as 28 thousand structural variants, including 15,000 deletions, 25% of them over a kilobase, together with about a thousand inversion and translocations. The average nucleotide diversity in non coding regions was lower than expected, 0.08% when all six chromosomes were considered. Interestingly, we did not find a substantial increased variability between individuals as opposed to within individual nucleotide diversity, 0.080 % and 0.077, respectively, when only SNPs are considered.




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