Concepedia

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism

Aditi Gupta, Nikita R. Dsouza, Yuri A. Zárate, Rachel C. Lombardo, Robert J. Hopkin, Allison R. Linehan, Jamela Simpson, Julie McCarrier, Katherine Agre, Ralitza H. Gavrilova,

European Journal of Medical Genetics · 2019 · 15 citations · 22 references

DOI

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22

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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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 · 30K citations · Full text

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Protein 3D Structure Computed from Evolutionary Sequence Variation

Debora S. Marks, Lucy J. Colwell, Robert P. Sheridan et al. · PLoS ONE · 2011 · 1.2K citations · Full text

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Identification of a gene encoding an acyl CoA:diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis

Sylvaine Cases, Steven J. Smith, Yao-Wu Zheng et al. · Proceedings of the National Academy of Sciences · 1998 · 1.1K citations · Full text

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Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

, , +14