학술논문
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Document Type
article
Author
Robert Schöpflin; Uirá Souto Melo; Hossein Moeinzadeh; David Heller; Verena Laupert; Jakob Hertzberg; Manuel Holtgrewe; Nico Alavi; Marius-Konstantin Klever; Julius Jungnitsch; Emel Comak; Seval Türkmen; Denise Horn; Yannis Duffourd; Laurence Faivre; Patrick Callier; Damien Sanlaville; Orsetta Zuffardi; Romano Tenconi; Nehir Edibe Kurtas; Sabrina Giglio; Bettina Prager; Anna Latos-Bielenska; Ida Vogel; Merete Bugge; Niels Tommerup; Malte Spielmann; Antonio Vitobello; Vera M. Kalscheuer; Martin Vingron; Stefan Mundlos
Source
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and the three-dimensional chromatin architecture. They find breakpoints are enriched in inactive regions and can result in chromatin domain fusions.