Screening and characterization of causative structural variants for bipolar disorder in a significantly linked chromosomal region onXq24-q27 in an extended pedigree from a genetic isolate

Author(s): Ekholm, Jenny and Wenger, Aaron and Kujawa, Steve and Sethuraman, Anand and Auvinen, Petri and Paulin, Lars and Smolander, Olli-Pekka and Laine, Pia and Rateman, Denise and Richmond, Todd A. and Mayhew, George and Wendt, Jennifer and Burgess, Daniel L. and Partonen, Timo and Liuhanen, Johana and Paunio, Tiina

Bipolar disorder (BD) is a phenotypically and genetically complex and debilitating neurological disorder that affects 1% of the worldwide population. There is compelling evidence from family, twin and adoption studies supporting the involvement of a genetic predisposition in BD with estimated heritability up to ~ 80%. The risk in first-degree relatives is ten times higher than in the general population. Linkage and association studies have implicated multiple putative chromosomal loci for BP susceptibility, however no disease genes have been identified to date.

Organization: PacBio
Year: 2017

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