Concepedia

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Ha Young Shin, Hoon Jang, Joo Hyung Han, Hyung Jun Park, Jung Hwan Lee, So Won Kim, Seung Min Kim, Young Eun Park, Dae‐Seong Kim, Duhee Bang,

Neuromuscular Disorders · 2015 · 22 citations · 30 references

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Concepts

References

30

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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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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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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