Litcius/Paper detail

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

David Porubskỳ, Wolfram Höps, Hufsah Ashraf, PingHsun Hsieh, Bernardo Rodríguez–Martín, Feyza Yilmaz, Jana Ebler, Pille Hallast, Flavia Angela Maria Maggiolini, William T. Harvey, Barbara Henning, Peter A. Audano, David Gordon, Peter Ebert, Patrick Hasenfeld, Eva Benito, Qihui Zhu, Charles Lee, Francesca Antonacci, Matthias Steinrücken, Christine R. Beck, Ashley D. Sanders, Tobias Marschall, Evan E. Eichler, Jan O. Korbel

2022Cell189 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsRetrotransposonCopy-number variationHaplotypeLocus (genetics)Non-allelic homologous recombinationGenomeChromosomal inversionAlleleStructural variationGenomicsGenome instabilityHomologous recombinationRecombinationTransposable elementGeneDNAChromosomeGenetic recombinationKaryotypeDNA damageGenomic variations and chromosomal abnormalitiesChromosomal and Genetic VariationsPrenatal Screening and Diagnostics