Concepedia

Large-scale whole-genome sequencing of the Icelandic population

Daníel F. Guðbjartsson, Hannes Helgason, Sigurjón A. Guðjónsson, Florian Zink, Asmundur Oddson, Arnaldur Gylfason, Søren Besenbacher, Gísli Magnússon, Bjarni V. Halldórsson, Eirikur Hjartarson,

Nature Genetics · 2015 · 834 citations · 68 references

DOI

Concepts

References

68

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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Gene Ontology: tool for the unification of biology

Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 44.6K citations · Full text

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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

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An integrated encyclopedia of DNA elements in the human genome

Nature · 2012 · 19.4K citations · Full text

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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

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