Concepedia

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton, Denise M. Kirby, Gabriel Crawford, Noël P. Burtt, Manuel A. Rivas, Candace Guiducci, Damien L. Bruno, Olga Goldberger,

Nature Genetics · 2010 · 361 citations · 44 references

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44

The Sequence Alignment/Map format and SAMtools

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

, , +17

dbSNP: the NCBI database of genetic variation

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

, , +17

A second generation human haplotype map of over 3.1 million SNPs

Sarah S. Murray, Todd A. Johnson · Nature · 2007 · 4.6K citations · Full text

, , +11

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

, , +11

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Heng Li, Jue Ruan, Richard Durbin · Genome Research · 2008 · 2.7K citations · Full text

, , +17