Characterizing allele- and haplotype-specific copy numbers in single cells with CHISEL

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Life Sciences, Bioinformatics, Genetics +17

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li · Bioinformatics · 2011 · 7.4K citations · Full text

Life Sciences, Biostatistics, Genetics +16

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

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Next-generation genotype imputation service and methods

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Life Sciences, Biostatistics, Genetics +10

The landscape of somatic copy-number alteration across human cancers

Rameen Beroukhim, Craig H. Mermel, Dale Porter et al. · Nature · 2010 · 4.1K citations · Full text

Medicine, Genetics, Molecular Genetics +14