TY - JOUR AU - Kember, Rachel L. AU - Georgi, Benjamin AU - Bailey-Wilson, Joan E. AU - Stambolian, Dwight AU - Paul, Steven M. AU - Bućan, Maja PY - 2015 DA - 2015/03/15 TI - Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder JO - BMC Genetics SP - 27 VL - 16 IS - 1 AB - Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder. We identified CNV regions arising from common ancestral mutations by utilizing the pedigree information. By combining this analysis with whole genome sequence data in the same individuals, we also explored the role of compound heterozygosity. SN - 1471-2156 UR - https://doi.org/10.1186/s12863-015-0184-1 DO - 10.1186/s12863-015-0184-1 ID - Kember2015 ER -