Concepedia

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

Sarah Barclay, Kyle Inman, Valerie L. Luks, John B. McIntyre, Alyaa Al‐Ibraheemi, Alanna J. Church, Antonio R. Pérez‐Atayde, Shamlal Mangray, Michael Jeng, Sara Kreimer,

Genetics in Medicine · 2018 · 137 citations · 33 references

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33

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K 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

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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

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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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

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