Concepedia

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

Hirotoshi Sakaguchi, Yusuke Okuno, Hideki Muramatsu, Kenichi Yoshida, Yuichi Shiraishi, Mariko Takahashi, Ayana Kon, Masashi Sanada, Kenichi Chiba, Hiroko Tanaka,

Nature Genetics · 2013 · 219 citations · 34 references

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34

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang, Man Li, Håkon Håkonarson · Nucleic Acids Research · 2010 · 15.6K citations · Full text

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

Helga Thorvaldsdóttir, James Robinson, Jill P. Mesirov · Briefings in Bioinformatics · 2012 · 9.8K citations · Full text

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<tt>BLAT</tt>—The <tt>BLAST</tt>-Like Alignment Tool

W. James Kent · Genome Research · 2002 · 8.4K citations · Full text

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