Concepedia

Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1

Yanan Cao, Zhibo Gao, Lin Li, Xiuli Jiang, Aijing Shan, Jie Cai, Ying Peng, Yanli Li, Xiaohua Jiang, Xuanlin Huang,

Nature Communications · 2013 · 175 citations · 23 references

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23

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

, , +12

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

, , +17

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

, , +17

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.3K citations · Full text

, , +17