Haplotype phasing of a bipolar disorder pedigree revealed rare multiple mutations of SPOCD1 gene in the 1p36–35 susceptibility locus - Takamatsu, Gakuya; Yanagi, Kumiko; Koganebuchi, Kae; Yoshida, Fuyuko; Lee, Jun-Seok; Toyama, Kanako; Hattori, Kotaro; Katagiri, Chiaki; Kondo, Tsuyoshi; Kunugi, Hiroshi; Kimura, Ryosuke; Kaname, Tadashi; et al. (Journal of affective disorders, 2022)
Keywords: Bipolar and related disorders; DNA transposable elements; Genetic association studies; Genetic linkage; Major depressive disorder; Psychiatric/Mental Health; Whole genome sequencing; LINE-1; BD; WGS; GWAS; WES; Whole genome sequencing; CNV; DSM-IV-TR; MDD; Major depressive disorder; sMDD; PRS; 1000GP; RDD; SNP; RNA-seq; LOD; SV; DNA transposable elements; qRT-PCR; PBMC; GWEIS; TE; Bipolar and related disorders; MAF; Genetic linkage; Genetic association studies; Polygenic risk score; Structural variant; Copy number variant; 1000 Genomes Project; Bipolar disorder; Long interspersed element-1; Major depressive disorder with a single episode; Genome-wide association study; Peripheral blood mononuclear cell; Recurrent major depressive disorder; Minor allele frequency; RNA sequencing; Quantitative real-time PCR; Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision; Whole-exome sequencing; Transposable element; Genome-wide by environment interaction study; Single nucleotide polymorphism; Logarithm of odds