Concepedia

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

Christopher S. Poultney, Arthur P. Goldberg, Elodie Drapeau, Yan Kou, Hala Harony‐Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnström,

The American Journal of Human Genetics · 2013 · 169 citations · 44 references

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44

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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Gene Ontology: tool for the unification of biology

Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 44.6K 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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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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Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

Edward Y. Chen, Christopher M. Tan, Yan Kou et al. · BMC Bioinformatics · 2013 · 8.4K citations · Full text

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