Article
Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.
BMC genomics - 18 Apr 2023
Steensma Marije J, Lee Y L, Bouwman A C, Pita Barros C, Derks M F L, Bink M C A M, Harlizius B, Huisman A E, Crooijmans R P M A, Groenen M A M, Mulder H A, Rochus C M
Abstract excerpt
BACKGROUND: De novo mutations arising in the germline are a source of genetic variation and their discovery broadens our understanding of genetic disorders and evolutionary patterns. Although the number of de novo single nucleotide variants (dnSNVs) has been studied in a number of species, relatively little is known about the occurrence of de novo structural variants (dnSVs). In this study, we investigated 37...
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