Bioinformatics · 2010 · 2K citations · 32 references
Source code in C and utility programs in Perl are freely available for download as part of the GMAP package at http://share.gene.com/gmap.
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Fast and accurate short read alignment with Burrows–Wheeler transform
Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
Ben Langmead, Cole Trapnell, Mihai Pop et al. · Genome biology · 2009 · 22.5K citations · Full text
TopHat: discovering splice junctions with RNA-Seq
Cole Trapnell, Lior Pachter, Steven L. Salzberg · Bioinformatics · 2009 · 12K citations · Full text
<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool
W. James Kent · Genome Research · 2002 · 8.3K citations · Full text
dbSNP: the NCBI database of genetic variation
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