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

Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions

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Veröffentlicht in:	Cell 2022-05, Vol.185 (11), p.1986-2005.e26
Hauptverfasser:	Porubsky, David, Höps, Wolfram, Ashraf, Hufsah, Hsieh, PingHsun, Rodriguez-Martin, Bernardo, Yilmaz, Feyza, Ebler, Jana, Hallast, Pille, Maria Maggiolini, Flavia Angela, Harvey, William T., Henning, Barbara, Audano, Peter A., Gordon, David S., Ebert, Peter, Hasenfeld, Patrick, Benito, Eva, Zhu, Qihui, Lee, Charles, Antonacci, Francesca, Steinrücken, Matthias, Beck, Christine R., Sanders, Ashley D., Marschall, Tobias, Eichler, Evan E., Korbel, Jan O.
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Inversion - genetics DNA Copy Number Variations - genetics genetic instability genetic variation genome Genome, Human genomic disorder genomic instability genomic structural variation Genomics haplotypes heterozygosity homologous recombination human genetic variation Humans inversion L1 mobile element loci nucleotides pathogenic CNV recurrent mutation retrotransposon retrotransposons Segmental Duplications, Genomic
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Beschreibung
Zusammenfassung:	Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation class. By integrating multiple genomic technologies, we discover 729 inversions in 41 human genomes. Approximately 85% of inversions
ISSN:	0092-8674 1097-4172 1097-4172
DOI:	10.1016/j.cell.2022.04.017