Identification of copy number variants from exome sequence data

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 · 12.1K citations · Full text

Dna Sequencing, Sequencing, Medicine +14

GENCODE: The reference human genome annotation for The ENCODE Project

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Genetics, Gencode Consortium, Molecular Biology +21

A faster circular binary segmentation algorithm for the analysis of array CGH data

E. S. Venkatraman, Adam B. Olshen · Bioinformatics · 2007 · 959 citations · Full text

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

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Copy number variation detection and genotyping from exome sequence data

Niklas Krumm, Peter H. Sudmant, Arthur Ko et al. · Genome Research · 2012 · 663 citations · Full text