Concepedia

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

Nicole J. Boczek, Katharina Hopp, Lacey G. Benoit, Daniel Kraft, Margot A. Cousin, Patrick R. Blackburn, Charles D. Madsen, Gavin R. Oliver, Asha Nair, Jie Na,

European Journal of Human Genetics · 2018 · 31 citations · 23 references

DOI

Concepts

References

23

R: A Language and Environment for Statistical Computing

R Core Team · 2000 · 353K citations · Full text

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Fitting Linear Mixed-Effects Models Using <b>lme4</b>

Douglas M. Bates, Martin Mächler, Benjamin M. Bolker et al. · Journal of Statistical Software · 2015 · 85.6K citations · Full text

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HTSeq—a Python framework to work with high-throughput sequencing data

Simon Anders, Paul Theodor Pyl, Wolfgang Huber · Bioinformatics · 2014 · 22.7K citations · Full text

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TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

Daehwan Kim, Geo Pertea, Cole Trapnell et al. · Genome biology · 2013 · 13.7K 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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