9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

Ben Langmead, Cole Trapnell, Mihai Pop et al. · Genome biology · 2009 · 23K citations · Full text

Life Sciences, Bioinformatics, High-performance Computing +15

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

Panos Deloukas, Audrey Duncanson, Dominic Kwiatkowski et al. · Nature · 2007 · 9.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

Erez Lieberman-Aiden, Nynke L. van Berkum, Louise Williams et al. · Science · 2009 · 9.6K citations · Full text

Life Sciences, Genetics, Molecular Biology +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

A second generation human haplotype map of over 3.1 million SNPs

Sarah S. Murray, Todd A. Johnson · Nature · 2007 · 4.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11