Concepedia

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Carine Le Goff, Clémentine Mahaut, Avinash Abhyankar, Wilfried Le Goff, Valérie Serre, Alexandra Afenjar, Anne Destrèe, Maja Di Rocco, Delphine Héron, Sébastien Jacquemont,

Nature Genetics · 2011 · 156 citations · 22 references

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22

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

, , +17

<i>DPC4</i> , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1

Stephan A. Hahn, Mieke Schutte, A.T.M. Shamsul Hoque et al. · Science · 1996 · 2.3K citations

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Mutations in the <i>SMAD4/DPC4</i> Gene in Juvenile Polyposis

James R. Howe, Stina Roth, John C. Ringold et al. · Science · 1998 · 897 citations

, , +17