Concepedia

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B. Haack, Katharina Danhauser, Birgit Haberberger, Jonathan Hoser, Valentina Strecker, Detlef Boehm, Graziella Uziel, Eleonora Lamantea, Federica Invernizzi, Joanna Poulton,

Nature Genetics · 2010 · 252 citations · 25 references

DOI

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25

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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dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

, , +17

The International HapMap Project

Richard A. Gibbs, John W. Belmont, Paul Hardenbol et al. · Nature · 2003 · 6.2K citations · Full text

, , +14

Tricine–SDS-PAGE

Hermann Schägger · Nature Protocols · 2006 · 2.5K citations

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

, , +9