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Basic local alignment search tool.
A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP)Expand
Initial sequencing and analysis of the human genome.
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence. Expand
Identification of protein coding regions by database similarity search
TLDR
The computer program BLASTX performed conceptual translation of a nucleotide query sequence followed by a protein database search in one programmatic step and was characterized as appropriate for use in moderate and large scale sequencing projects at the earliest opportunity, when the data are most prone to containing errors. Expand
Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map
Single nucleotide polymorphisms (SNPs) are valuable genetic markers of human disease. They also comprise the highest potential density marker set available for mapping experimentally derivedExpand
Local alignment statistics.
Publisher Summary This chapter discusses the study of local alignment statistics, the distribution of optimal gapped subalignment scores, and the evidence that two parameters are sufficient toExpand
Issues in searching molecular sequence databases
TLDR
Here, a number of issues are considered, including the choice of scoring systems, the statistical significance of alignments, the masking of uninformative or potentially confounding sequence regions, the nature and extent of sequence redundancy in the databases and network access to similarity search services. Expand
A general approach to single-nucleotide polymorphism discovery
TLDR
A unified approach to the discovery of variations in genetic sequence data of arbitrary DNA sources is presented, using the rapidly emerging genomic sequence as a template on which to layer often unmapped, fragmentary sequence data and to use base quality values to discern true allelic variations from sequencing errors. Expand
The DNA sequence of human chromosome 7
TLDR
The euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far, has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence. Expand
MaskerAid : a performance enhancement to RepeatMasker
TLDR
MaskerAid is a software enhancement to RepeatMasker that increased the speed of masking more than 30-fold at the most sensitive setting, creating a costly bottleneck in large-scale analyses. Expand
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