Concepedia

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca, Stefan Weitzer, Davut Pehli̇van, Hiroshi Shiraishi, Tasos Gogakos, Toshikatsu Hanada, Shalini N. Jhangiani, Wojciech Wiszniewski, Marjorie Withers, Ian M. Campbell,

Cell · 2014 · 222 citations · 30 references

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30

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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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

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Cerebral organoids model human brain development and microcephaly

Madeline A. Lancaster, Magdalena Renner, Carol-Anne Martin et al. · Nature · 2013 · 5.4K citations · Full text

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Circular binary segmentation for the analysis of array-based DNA copy number data

Adam B. Olshen, E. S. Venkatraman, R. Lucito et al. · Biostatistics · 2004 · 2.4K citations

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