Mapping and sequencing of structural variation from eight human genomes

A haplotype map of the human genome

Nature · 2005 · 5.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Ewan Birney, Shane Neph, Evelyn J. Cheung et al. · Nature · 2007 · 5.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Ravi Sachidanandam, David B. Weissman, Steven C. Schmidt et al. · Nature · 2001 · 3K citations

Life Sciences, Genetics, Molecular Genetics +14

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

Life Sciences, Bioinformatics, Genetics +14