Deciphering the complexity of simple chromosomal insertions by genome sequencing

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

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

Philip J. Stephens, Chris Greenman, Beiyuan Fu et al. · Cell · 2011 · 2.4K citations · Full text

Medicine, Genetics, Oncology +17

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich et al. · Cell · 2015 · 2.3K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

A structural variation reference for medical and population genetics

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski et al. · Nature · 2020 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16