Concepedia

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael,

Neurogenetics · 2015 · 91 citations · 29 references

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29

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text

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HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

Michael Remmert, A. Biegert, Andreas Hauser et al. · Nature Methods · 2011 · 2.5K citations · Full text

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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