Concepedia

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael O‘Donovan, Michael J. Owen,

The American Journal of Human Genetics · 2012 · 597 citations · 31 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsGenomic Data AnalysisGenomicsCopy Number Variant AnalysisCopy Number VariantsCopy Number VariationDna SequencingVariant CallingVariant DetectionCopy Number Variant CallingCopy Number Variant Calling AlgorithmsCopy Number Variant DetectionExome SequencingGenome-wide Copy Number Variation AnalysisWhole Exome Sequencing StudiesWhole-exome Sequencing Analysis

References

31

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

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

Life Sciences, Bioinformatics, Genetics +13

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

Life Sciences, Bioinformatics, Genetics +14

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

Life Sciences, Biology, Genetics +11

The Wellcome Trust Case Control Consortium, U.K.

Kaspar Mossman · Scientific American · 2008 · 2.7K citations

Social Sciences, Information Systems, Organizations +1