Concepedia

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, Shalini N. Jhangiani, Jawid M. Fatih, Tomasz Gambin, Yavuz Bayram, Iván K. Chinn, Ender Karaca, Jaya Punetha,

The American Journal of Human Genetics · 2018 · 233 citations · 52 references

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A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K 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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Statistical Methods for Research Workers

American Journal of Clinical Pathology · 1945 · 11.1K citations

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

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