Orion J. Buske

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham, Anshul Kundaje, Shelley Force Aldred et al. · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · 2012 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Unsupervised pattern discovery in human chromatin structure through genomic segmentation

Michael M. Hoffman, Orion J. Buske, Jie Wang et al. · Nature Methods · 2012 · 654 citations

Life Sciences, Bioinformatics, Genetics +16

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Next-generation diagnostics and disease-gene discovery with the Exomiser

Damian Smedley, Julius O.B. Jacobsen, Marten Jäger et al. · Nature Protocols · 2015 · 466 citations

Life Sciences, Bioinformatics, Genetics +14

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith et al. · Cell Genomics · 2021 · 294 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +17