id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_dgybuusj4fezxb3ofqkkpvek7i	Rachel L Kember	Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder	2015.0	16	.pdf	application/pdf	10728	1216	66	Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder Results: Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin Keywords: CNV, Bipolar disorder, Family based studies, Mendelian disease genes, Genetics loci with Mendelian disease [32], and 50 CNV regions identified in a subset of individuals from the Old Order Amish rare CNVs in genes that are present frequently in individuals with bipolar disorder (Table 3). individuals, although 7 large, rare, CNVs in genes occurred more frequently in subjects with bipolar disorder To ask if CNVs in disease genes may contribute to the allelic architecture in the Amish family 81 CNV regions that overlap with genes with known disease causing mutations (Additional file 1: Table S3). true for rare (including Amish specific) CNVs encompassing disease genes (narrow phenotype burden: 5.0, unaffected burden 4.0, p = 0.06) (Table 2).	./cache/work_dgybuusj4fezxb3ofqkkpvek7i.pdf	./txt/work_dgybuusj4fezxb3ofqkkpvek7i.txt