Concepedia

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian, Michael H. Guo, Daniel Yuan, Leif S. Ludwig, Robert E. Handsaker, Nour J. Abdulhay, Claudia Fiorini, Giulio Genovese,

The American Journal of Human Genetics · 2018 · 270 citations · 69 references

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Concepts

References

69

STAR: ultrafast universal RNA-seq aligner

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

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RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

Bo Li, Colin N. Dewey · BMC Bioinformatics · 2011 · 23.4K citations · Full text

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A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

The PyMOL Molecular Graphics System

Warren L. DeLano · Medical Entomology and Zoology · 2002 · 18.1K citations

, , +11

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text

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