Concepedia

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

Alexandros Onoufriadis, Michael A. Simpson, Andrew Pink, Paola Di Meglio, Catherine Smith, Venu Pullabhatla, Jo Knight, Sarah L. Spain, Frank O. Nestlé, A. David Burden,

The American Journal of Human Genetics · 2011 · 525 citations · 13 references

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13

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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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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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

Amy Strange, Francesca Capon, Michael E. Weale et al. · Nature Genetics · 2010 · 1.1K citations · Full text

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An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson et al. · New England Journal of Medicine · 2009 · 992 citations · Full text

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