Title: SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Authors: Vogt, Julia ×
Bengesser, Kathrin
Claes, Kathleen Bm
Wimmer, Katharina
Mautner, Victor-Felix
van Minkelen, Rick
Legius, Eric
Brems, Hilde
Upadhyaya, Meena
Högel, Josef
Lazaro, Conxi
Rosenbaum, Thorsten
Bammert, Simone
Messiaen, Ludwine
Cooper, David N
Kehrer-Sawatzki, Hildegard #
Issue Date: Jun-2014
Series Title: Genome biology vol:15 issue:6 pages:R80
Article number: 10.1186/gb-2014-15-6-r80
Abstract: Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated.
ISSN: 1474-760X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

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