Concepedia

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Heather Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osório Lopes Abath Neto, R. Bryan Sutton, Biljana Ilkovski, Norma B. Romero,

The American Journal of Human Genetics · 2016 · 106 citations · 31 references

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31

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

Julie Thompson, Desmond G. Higgins, Toby J. Gibson · Nucleic Acids Research · 1994 · 64.9K 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

, , +17

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

, , +17

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

, , +15

Phylogeny.fr: robust phylogenetic analysis for the non-specialist

Alexis Dereeper, Valentin Guignon, Guillaume Blanc et al. · Nucleic Acids Research · 2008 · 4.8K citations · Full text

, , +13