Concepedia

Mutations in GNAL cause primary torsion dystonia

Tania Fuchs, Rachel Saunders‐Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart A. Factor, Anthony E. Lang, Tsao‐Wei Liang, Richard Trosch, Sierra R. White,

Nature Genetics · 2012 · 322 citations · 56 references

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References

56

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Julie Thompson, Desmond G. Higgins, Toby J. Gibson · Nucleic Acids Research · 1994 · 64.9K 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

, , +12

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

, , +17

Primer3 on the WWW for General Users and for Biologist Programmers

Steve Rozen, Helen Skaletsky · Humana Press eBooks · 2003 · 15.1K citations

, , +7

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

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

, , +16