Concepedia

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

Yee Him Cheung, Tenzin Gayden, Philippe M. Campeau, Charles A. LeDuc, Donna Russo, Văn Hùng Nguyễn, Jiancheng Guo, Ming Qi, Yanfang Guan, Steffen Albrecht,

The American Journal of Human Genetics · 2013 · 171 citations · 20 references

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20

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 PyMOL Molecular Graphics System

Warren L. DeLano · Medical Entomology and Zoology · 2002 · 18.1K citations

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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

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Comparative Protein Modelling by Satisfaction of Spatial Restraints

Andrej Šali, Tom L. Blundell · Journal of Molecular Biology · 1993 · 13.2K citations

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TopHat: discovering splice junctions with RNA-Seq

Cole Trapnell, Lior Pachter, Steven L. Salzberg · Bioinformatics · 2009 · 12.1K citations · Full text

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