8 Whole Genome Sequencing (WGS)

Author: Lucas Toshio Ito
lucas.toshio.ito@gmail.com
Universidade Federal de São Paulo (UNIFESP)

Last updated: March 16, 2026

Counts represent raw availability before modality-specific quality control. Cumulative cases are participants who met the phenotype definition at any observed timepoint; missing assessments are skipped.

Psychiatric Disorders (DAWBA):

Attention-Deficit/Hyperactivity Disorder (ADHD): dcanyhk
Anxiety Disorder: dcpanic; dcagor; dcgena; dcsoph; dcspph
Bipolar Disorder / Mania: dcmania
Eating Disorder: dceat
Major Depressive Disorder (MDD): dcmadep
Obsessive–Compulsive Disorder (OCD): dcocd
Psychosis: dcpsych
Post-Traumatic Stress Disorder (PTSD): dcptsd
Any Psychiatric Disorder: dcany

Suicidality variables (C-SSRS):

Suicidal Ideation (SI): p_colbi1_lt, p_colbi2_lt
Suicide Attempt (SA): p_colbsb1a_lt, p_colbsb2a_lt, p_colbsb3a_lt

8.1 Demographic Characteristics

Demographic Characteristics of the Study Sample
Variable	Wave0 N = 2,279¹	Wave1 N = 2,279¹	Wave2 N = 2,279¹	Wave3 N = 2,279¹	Overall N = 2,279²
Sex at birth
Male	1,240 (54.4%)	1,240 (54.4%)	1,240 (54.4%)	1,240 (54.4%)	1,240 (54.4%)
Female	1,039 (45.6%)	1,039 (45.6%)	1,039 (45.6%)	1,039 (45.6%)	1,039 (45.6%)
Age
Mean (SD)	10.7 (1.9)	14.5 (1.9)	18.5 (2.0)	23.7 (2.0)	22.5 (3.8)
Median (Q1-Q3)	10.7 (9.2-12.2)	14.5 (13.0-16.0)	18.5 (16.9-20.0)	23.6 (22.1-25.3)	23.2 (21.3-25.0)
State
RS	1,173 (51.5%)	1,173 (51.5%)	1,173 (51.5%)	1,173 (51.5%)	1,173 (51.5%)
SP	1,106 (48.5%)	1,106 (48.5%)	1,106 (48.5%)	1,106 (48.5%)	1,106 (48.5%)
Selection
Random	879 (38.6%)	879 (38.6%)	879 (38.6%)	879 (38.6%)	879 (38.6%)
High Risk	1,400 (61.4%)	1,400 (61.4%)	1,400 (61.4%)	1,400 (61.4%)	1,400 (61.4%)
Skin color
White	1,287 (56.5%)	1,287 (56.5%)	1,287 (56.5%)	1,287 (56.5%)	1,287 (56.5%)
Black	292 (12.8%)	292 (12.8%)	292 (12.8%)	292 (12.8%)	292 (12.8%)
Between white and black (brown)	689 (30.2%)	689 (30.2%)	689 (30.2%)	689 (30.2%)	689 (30.2%)
Indigenous	5 (0.2%)	5 (0.2%)	5 (0.2%)	5 (0.2%)	5 (0.2%)
Asian	5 (0.2%)	5 (0.2%)	5 (0.2%)	5 (0.2%)	5 (0.2%)
¹ n (%)
² Overall N includes participants with whole genome sequencing (WGS) data at any timepoint and reflects data from their most recent assessment.

8.2 Wave-Specific Psychiatric Phenotypes

Wave-Specific Psychiatric Phenotypes Prevalence Among Probands with WGS Data (BHRC)
Psychiatric Phenotype	Wave 0 (N=2279)	Wave 1 (N=2279)	Wave 2 (N=2279)	Wave 3 (N=2279)	Lifetime (N=2279)¹
ADHD	258 (11.3%)	99 (5.3%)	50 (2.8%)	78 (4.0%)	393 (17.2%)
Anxiety Disorders	150 (6.6%)	158 (8.4%)	232 (12.9%)	349 (18.0%)	667 (29.3%)
Bipolar Disorder or Mania	5 (0.2%)	1 (0.1%)	7 (0.4%)	23 (1.2%)	36 (1.6%)
Eating Disorders	10 (0.4%)	18 (1.0%)	17 (0.9%)	45 (2.3%)	85 (3.7%)
Major Depressive Disorder	68 (3.0%)	106 (5.7%)	267 (14.8%)	251 (13.0%)	545 (23.9%)
OCD	7 (0.3%)	24 (1.3%)	18 (1.0%)	18 (0.9%)	57 (2.5%)
Psychosis	1 (0.0%)	2 (0.1%)	3 (0.2%)	0 (0.0%)	6 (0.3%)
PTSD	20 (0.9%)	11 (0.6%)	47 (2.6%)	94 (4.9%)	159 (7.0%)
Any Psychiatric Disorder	607 (26.6%)	448 (23.9%)	501 (27.8%)	676 (34.9%)	1321 (58.0%)
Suicidal Ideation²	0 (0.0%)	0 (0.0%)	0 (0.0%)	704 (36.3%)	704 (30.9%)
Suicide Attempt²	0 (0.0%)	0 (0.0%)	0 (0.0%)	353 (18.2%)	353 (15.5%)
¹ Lifetime N represents the phenotype at any assessment among participants with WGS data.
² Suicidality phenotypes were only evaluated in the last follow-up (Wave 3).
Diagnoses were assessed using the Development and Well-Being Assessment (DAWBA) following DSM-IV criteria. The table summarizes psychiatric disorders identified among probands at each assessment wave.

8.3 Cumulative Psychiatric Phenotypes

Cumulative Psychiatric Phenotypes Prevalence Across Waves Among Probands with WGS Data (BHRC)
Psychiatric Phenotype	Wave 0 (N=2279)	Wave 1 (N=2279)	Wave 2 (N=2279)	Wave 3 (N=2279)	Lifetime (N=2279)¹
ADHD	258 (11.3%)	311 (13.6%)	338 (14.8%)	393 (17.2%)	393 (17.2%)
Anxiety Disorders	150 (6.6%)	283 (12.4%)	453 (19.9%)	667 (29.3%)	667 (29.3%)
Bipolar Disorder or Mania	5 (0.2%)	6 (0.3%)	13 (0.6%)	36 (1.6%)	36 (1.6%)
Eating Disorders	10 (0.4%)	28 (1.2%)	45 (2.0%)	85 (3.7%)	85 (3.7%)
Major Depressive Disorder	68 (3.0%)	161 (7.1%)	384 (16.8%)	545 (23.9%)	545 (23.9%)
OCD	7 (0.3%)	30 (1.3%)	46 (2.0%)	57 (2.5%)	57 (2.5%)
Psychosis	1 (0.0%)	3 (0.1%)	6 (0.3%)	6 (0.3%)	6 (0.3%)
PTSD	20 (0.9%)	30 (1.3%)	77 (3.4%)	159 (7.0%)	159 (7.0%)
Any Psychiatric Disorder	607 (26.6%)	849 (37.3%)	1066 (46.8%)	1321 (58.0%)	1321 (58.0%)
Suicidal Ideation²	0 (0.0%)	0 (0.0%)	0 (0.0%)	704 (30.9%)	704 (30.9%)
Suicide Attempt²	0 (0.0%)	0 (0.0%)	0 (0.0%)	353 (15.5%)	353 (15.5%)
¹ Lifetime N represents the phenotype at any assessment among participants with WGS data.
² Suicidality phenotypes were only evaluated in the last follow-up (Wave 3).
Diagnoses were assessed using the Development and Well-Being Assessment (DAWBA) following DSM-IV criteria. The table summarizes lifetime psychiatric disorders identified in probands up to each wave. Phenotypes are counted from the wave of first identification onward.

8.4 Lifetime Psychiatric Diagnoses

Only lifetime and age-18+ summaries are shown because WGS data are not time-dependent.

Exclusions

Pre-18-only cases are excluded from adult controls. Participants without an age-18+ evaluation fall outside the adult denominator.

Psychiatric Diagnosis Timing Among Probands with WGS Data (BHRC)
Cell format: cases / controls / excluded lifetime cases
Psychiatric Phenotype	Lifetime (N=2279)	Diagnosed at 18+ (N=2014)
ADHD	393 / 1,886 / 0	100 / 1,654 / 259
Anxiety Disorders	667 / 1,612 / 0	440 / 1,368 / 206
Bipolar Disorder or Mania	36 / 2,243 / 0	26 / 1,978 / 9
Eating Disorders	85 / 2,194 / 0	55 / 1,929 / 29
Major Depressive Disorder	545 / 1,734 / 0	365 / 1,496 / 152
OCD	57 / 2,222 / 0	25 / 1,958 / 30
Psychosis	6 / 2,273 / 0	3 / 2,007 / 3
PTSD	159 / 2,120 / 0	114 / 1,857 / 43
Any Psychiatric Disorder	1,321 / 958 / 0	816 / 788 / 410
Cells show cases / controls / excluded cases. Controls were assessed and never positive. Pre-18-only cases are excluded from adult controls; 265 participants lacked an age-18+ evaluation. Missing phenotype assessments are skipped.