Litcius/Paper detail

A robust benchmark for detection of germline large deletions and insertions

Justin M. Zook, Nancy F. Hansen, Nathan D. Olson, Lesley M. Chapman, James C. Mullikin, Chunlin Xiao, Stephen T. Sherry, Sergey Koren, Adam M. Phillippy, Paul C. Boutros, Sayed Mohammad Ebrahim Sahraeian, Vincent Huang, Alexandre Rouette, Noah Alexander, Christopher E. Mason, Iman Hajirasouliha, Camir Ricketts, Joyce Lee, Rick Tearle, Ian T. Fiddes, Álvaro Martínez Barrio, Jeremiah A. Wala, Andrew Carroll, Noushin Ghaffari, Oscar L. Rodriguez, Ali Bashir, Shaun D. Jackman, John J. Farrell, Aaron M. Wenger, Can Alkan, Arda Söylev, Michael C. Schatz, Shilpa Garg, George M. Church, Tobias Marschall, Ken Chen, Xian Fan, Adam C. English, Jeffrey Rosenfeld, Weichen Zhou, Ryan E. Mills, Jay M. Sage, Jennifer R. Davis, Michael D. Kaiser, John S. Oliver, Anthony P. Catalano, Mark Chaisson, Noah Spies, Fritz J. Sedlazeck, Marc Salit

2020Nature Biotechnology484 citationsDOIOpen Access PDF

Topics & Concepts

Benchmark (surveying)False positive paradoxComputational biologyGenomeGermlineBiologyHuman genomeSet (abstract data type)GeneticsComputer scienceStructural variationSequence (biology)Artificial intelligenceGeneProgramming languageGeographyGeodesyGenomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases