Concepedia

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary MacDougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian Rice, Heidi Erlandsen, Hans-Gerd Kehl, Hölger Thiele,

The American Journal of Human Genetics · 2015 · 227 citations · 19 references

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19

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

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Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

G Yeo, Christopher B. Burge · Journal of Computational Biology · 2004 · 2.1K citations · Full text

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Distinct and Essential Roles of Transcription Factors IRF-3 and IRF-7 in Response to Viruses for IFN-α/β Gene Induction

Mitsuharu Sato, Hirofumi Suemori, Naoki Hata et al. · Immunity · 2000 · 1.3K citations · Full text

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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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