Concepedia

Integrated analysis of germline and somatic variants in ovarian cancer

Krishna Kanchi, Kimberly Johnson, Charles Lu, Michael D. McLellan, Mark D.M. Leiserson, Michael C. Wendl, Qunyuan Zhang, Daniel C. Koboldt, Mingchao Xie, Cyriac Kandoth,

Nature Communications · 2014 · 304 citations · 53 references

Open access

Concepts

MedicineGeneticsOncologyCancer GeneticsGynecologic OncologyMolecular OncologyGermline Cancer PredispositionGermline Cancer SusceptibilityGermline Variant AnalysisGermline Variant InterpretationOvarian CancerOvarian NeoplasiaGermline Mutation AnalysisGermline Variant DetectionSomatic Mutation AnalysisSomatic Mutation ProfilingSomatic Variant Analysis

References

53

The Sequence Alignment/Map format and SAMtools

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

Life Sciences, Bioinformatics, Genetics +17

Fast and accurate short read alignment with Burrows–Wheeler transform

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

Life Sciences, Bioinformatics, Biology +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

Life Sciences, Bioinformatics, Genetics +17

Comprehensive molecular portraits of human breast tumours

Nature · 2012 · 12.4K citations · Full text

Medicine, Molecular Biology, Oncology +14

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

Computing, Bioinformatics, Visualization +15