Table 1 Bipolar disorder sequencing cohorts.

From: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Study

Ethnicity

Total N

Case/Control N

Female (%)

B1D/B2D/SAB/NOS/UNK (%)

P-LP SNVs

Exonic SNVs

Exonic coverage: median (25–75%)

BRIDGESa

US-Caucasian

3,556

1712/1844

32.4

100/0/0

4,812

680,910

8 (6–11)

RareBLISS

US-Caucasian

2,000

961/1039

53.0

90.8/0/9.2

3,394

465,504

78 (42–101)

Sweden

Swedish-Caucasian

2,787

831/1956

53.8

65.8/30.3/0.4/1.7/1.8

1,945

328,066

28 (24–37)

KPNC-EUR

US-Caucasian

384

192/192

71.6

100/0/0

511

108,307

34 (22–51)

KPNC-AFR

US-African American

191

96/95

71.2

100/0/0

308

132,872

39 (25–57)

KPNC-LAT

US-Latino

198

98/100

72.7

100/0/0

298

101,368

40 (26–60)

KPNC-EAS

US-East Asian

193

97/96

63.7

100/0/0

334

88,884

39 (26–58)

All

 

9,309

3987/5322

47.1

90.6/6.3/2.3

0.4/0.4

9,883

1,328,324

 
  1. We examined protein-coding (exome) sequence data in 9309 individuals of predominantly European ancestry from four independent studies. Cases and controls were recruited at ~1:1 ratio except in the Sweden cohort (~1:2 cases to controls). The Kaiser Permanente Northern California (KPNC) cohort was comprised of four race/ethnicity groups: 40% non-Hispanic white, 20% African American, 20% Latino, and 20% East Asian. The number of unique exon variants (including exonic, splicing, and 3’ and 5’ UTR regions) is listed for each cohort and across studies.
  2. SNV single nucleotide variant, WES whole-exome sequencing, BRIDGES Bipolar Research in Deep Genome and Epigenome Sequencing Study, RareBLISS Rare Bipolar Loci Identification through Synaptome Sequencing, EUR European ancestry, AFR African American ancestry, LAT Latino ancestry, EAS East Asian ancestry, B1D bipolar 1 disorder, B2D bipolar 2 disorder, SAB Schizoaffective disorder, bipolar type, NOS No otherwise specified, Miss missing specific diagnosis.
  3. aWhole-genome sequencing was performed in BRIDGES. Exome sequencing was performed in all other BSC cohorts.