A peer-reviewed version of this preprint was published in PeerJ on 8

Motivation: The enormous amount of short reads generated by the new DNA sequencing technologies call for the development of fast and accurate read alignment programs. A first generation of hashtable based methods has been developed, including MAQ, which is accurate, feature rich and fast enough

of cDNA fragments, yielding a digital inventory of gene and mRNA isoform expression. Analysis of mappings of sequence reads to exon-exon junctions indicated that 92-94% of human genes undergo alternative splicing (AS), ∼86 % with a minor isoform frequency of 15% or more. Differences in isoform

accuracy. phred appears to be the first base-calling program to achieve a lower error rate than the ABI software, averaging 40%–50 % fewer errors in the data sets examined independent of position in read, machine running conditions, or sequencing chemistry.

Abstract not found

Often, problems in biological sequence analysis are just a matter of putting the right label on each residue. In gene identification, we want to label nucleotides as exons, introns, or intergenic sequence. In sequence alignment, we want to associate residues in a query sequence with ho

and subsequently whmh data sets an active user may read or wrote. Flow controls regulate the dissemination of values among the data sets accessible to a user. Inference controls protect statistical databases by preventing questioners from deducing confidential information by posing carefully designed sequences

Metagenomic sequencing projects yield numerous sequencing reads of a diverse range of uncultivated and mostly yet unknown microorganisms. In many cases, these sequencing reads cannot be assembled into longer contigs. Thus, gene prediction tools that were originally developed for wholegenome

data sets can be mined for the presence of sequence variants of interest by localized assembly, which is a faster, easier, and more accurate approach. We present TASR, a streamlined assembler that interrogates very large NGS data sets for the presence of specific variants by only considering reads

A new generation of sequencing technologies is revolutionizing molecular biology. Illumina’s Solexa and Applied Biosystems ’ SOLiD generate gigabases of nucleotide sequence per week. However, a perceived limitation of these ultra-high-throughput technologies is their short read-lengths. De novo