Concepedia

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

Justin M. Zook, Brad Chapman, Jason Wang, David Mittelman, Oliver Hofmann, Marc Salit

Nature Biotechnology · 2014 · 948 citations · 29 references

DOIFull text

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References

29

The Sequence Alignment/Map format and SAMtools

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

, , +17

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

Comprehensive molecular characterization of human colon and rectal cancer

Nature · 2012 · 8.7K citations · Full text

, , +16