Concepedia

HBOC multi-gene panel testing: comparison of two sequencing centers

Christopher Schroeder, Ulrike Faust, Marc Sturm, Karl Hackmann, Kathrin Grundmann, Florian Harmuth, Kristin Bosse, Martin Kehrer, Tanja Benkert, Barbara Klink,

Breast Cancer Research and Treatment · 2015 · 45 citations · 28 references

DOI

Concepts

References

28

The Sequence Alignment/Map format and SAMtools

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

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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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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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Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K 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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