Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Ewan Birney, Shane Neph, Evelyn J. Cheung et al. · Nature · 2007 · 5.3K citations · Full text

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Fast and SNP-tolerant detection of complex variants and splicing in short reads

Thomas D. Wu, Şerban Nacu · Bioinformatics · 2010 · 2K citations · Full text

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MatInspector and beyond: promoter analysis based on transcription factor binding sites

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rtracklayer: an R package for interfacing with genome browsers

Michael Lawrence, Robert Gentleman, Vincent J. Carey · Bioinformatics · 2009 · 1.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +15