Concepedia

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Ugur M. Ayturk, Javier Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P. Kozakewich, Joyce Bischoff,

The American Journal of Human Genetics · 2016 · 213 citations · 34 references

DOIFull text

Open access

Concepts

References

34

The Sequence Alignment/Map format and SAMtools

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

, , +17

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 56.2K citations · Full text

, , +17

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

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Géraldine Van der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7.2K citations

, , +14