Article
High-resolution structural variants catalogue in a large-scale whole genome sequenced bovine family cohort data.
BMC genomics - 1 May 2023
Lee Young-Lim, Bosse Mirte, Takeda Haruko, Moreira Gabriel Costa Monteiro, Karim Latifa, Druet Tom, Oget-Ebrad Claire, Coppieters Wouter, Veerkamp Roel F, Groenen Martien A M, Georges Michel, Bouwman Aniek C, Charlier Carole
Abstract excerpt
BACKGROUND: Structural variants (SVs) are chromosomal segments that differ between genomes, such as deletions, duplications, insertions, inversions and translocations. The genomics revolution enabled the discovery of sub-microscopic SVs via array and whole-genome sequencing (WGS) data, paving the way to unravel the functional impact of SVs. Recent human expression QTL mapping studies demonstrated that SVs play a...
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