Concepedia

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L. Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M. Claasen,

Seminars in Pediatric Neurology · 2017 · 12 citations · 29 references

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29

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 64.7K citations · Full text

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 28.9K citations · Full text

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

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text

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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.4K citations · Full text

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