Nature Genetics · 2004 · 2.9K citations · 10 references
Life SciencesBioinformaticsGeneticsGenomic Data AnalysisGenomicsHuman GeneticsGenetic VariationGenomic VariationHuman VariationVariant AnalysisVariant CallingVariant DetectionCopy Number Variant DetectionCopy Number Variation DetectionPopulation Variant CallingPopulation Variant DetectionVariant Calling From Long Reads
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Recent Segmental Duplications in the Human Genome
Jeffrey A. Bailey, Zhiping Gu, Royden A. Clark et al. · Science · 2002 · 1.4K citations
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Lucy R. Osborne, Martin Li, Barbara R. Pober et al. · Nature Genetics · 2001 · 350 citations · Full text