Concepedia

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand‐Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee,

The American Journal of Human Genetics · 2019 · 86 citations · 34 references

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34

Fast gapped-read alignment with Bowtie 2

Ben Langmead, Steven L. Salzberg · Nature Methods · 2012 · 61.1K citations

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MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

Kazutaka Katoh, Daron M. Standley · Molecular Biology and Evolution · 2013 · 48.3K citations · Full text

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text

, , +17

Genome engineering using the CRISPR-Cas9 system

F. Ann Ran, Patrick D. Hsu, Jason Wright et al. · Nature Protocols · 2013 · 11.7K citations · Full text

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Jalview Version 2—a multiple sequence alignment editor and analysis workbench

Andrew Waterhouse, James B Procter, David Martin et al. · Bioinformatics · 2009 · 10.9K citations · Full text

, , +16