Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

Erstveröffentlichung
2017Authors
Hillmer, Morten
Summerer, Anna
Mautner, Victor-Felix
Hoegel, Josef
Cooper, David N.
Wissenschaftlicher Artikel
Published in
Human Mutation ; 38 (2017), 12. - S. 1711-1722. - ISSN 1059-7794. - eISSN 1098-1004
Link to publication
https://dx.doi.org/10.1002/humu.23319Institutions
UKU. Institut für HumangenetikSubject headings
[Free subject headings]: copy number variants | genomic breakpoints | NAHR | Neurofibromatosis Type-1 | NF1 | NF1 microdeletion | nonallelic homologous recombination | williams-beuren-syndrome | copy-number variation | large nf1 deletions | human y-chromosome | segmental duplications | gene conversion | human genome | meiotic recombination | inversion polymorphism | mutational mechanisms[DDC subject group]: DDC 610 / Medicine & health