Concepedia

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong, Wei Wei, Ni Wang, Guohe Tan, Shunling Guo, J. He, Ya‐Fang Chen, Qi‐Jie Zhang,

Nature Genetics · 2011 · 487 citations · 15 references

DOI

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15

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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SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

, , +17

SOAP2: an improved ultrafast tool for short read alignment

Ruiqiang Li, Chang Yu, Yingrui Li et al. · Bioinformatics · 2009 · 3.9K citations

, , +17

A gene atlas of the mouse and human protein-encoding transcriptomes

Andrew I. Su, Tim Wiltshire, Serge Batalov et al. · Proceedings of the National Academy of Sciences · 2004 · 3.5K citations · Full text

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Parametric and nonparametric linkage analysis: a unified multipoint approach.

Leonid Kruglyak, Mark J. Daly, Mary Pat Reeve-Daly et al. · PubMed · 1996 · 2.9K citations · Full text

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