Table 1 SNP-based heritability (h2g) for EHR-based bipolar disorder from the Partners Healthcare Research Patient Data Registry

From: Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

Bipolar disorder algorithms

h2g (SE)

  

Sample size

 

Liability scale

Observed scale

P-valueb

PPV

cases

controls

95-NLP

0.24 (0.10)

0.25 (0.10)

0.015

0.86

862

3952

Coded-strict

0.09 (0.05)

0.15 (0.08)

0.064

0.84

1968

3952

Coded-broad

0.13 (0.04)

0.22 (0.08)

0.003

0.80

2581

3952

Coded-broad-SV

0.00 (0.11)

0.00 (0.18)

0.591

0.50

408

3952

All except coded-broad-SV

0.12 (0.04)

0.21 (0.07)

0.004

0.83

3013

3952

ICCBD + PGCBDa

0.23 (0.01)

0.41 (0.02)

3.17 × 10−80

NA

13902

19279

  1. SNP-based heritability on liability scale was converted from observed scale based on population prevalence of 1%
  2. aICCBD + PGCBD: Bipolar disorder genome-wide association study from the ICCBD and PGC1 with cases ascertained by traditional methods (Charney et al.7)
  3. bTest for h2g different from 0. PPV: positive predictive values from clinical validation (Castro et al.10). 95-NLP: probabilistic algorithm with 95% specificity based on natural language processing. Coded-strict, Coded-broad, Coded-broad-SV: coded rule-based algorithms with decreasing stringency. SV: single visit. SE: standard error
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