Creating Subjects
Subjects in VariantMiner represent the individuals (patients) from whom biological samples are collected for genetic analysis. This guide walks you through creating and managing subject records.
What is a Subject?
A subject is a patient or individual record that contains:
Demographics: Name, date of birth, gender, ethnicity
Medical Information: Clinical history, phenotype, diagnosis
Family Information: Family relationships and pedigree data
Consent Status: Testing consent and permissions
Sample Associations: Links to biological samples
Creating a New Subject
From the Subjects Dashboard
Navigate to Subjects
Click "Subjects" in the main navigation
You'll see the subjects dashboard for your current workspace
The subjects dashboard showing list of subjects and creation options
Start Subject Creation
Click "Create New Subject" button
Subject creation form opens
Enter Basic Information
Subject ID: Unique identifier (auto-generated or custom)
First Name: Patient's first name
Last Name: Patient's last name
Date of Birth: Patient's birth date
Gender: Male, Female, or Other
Ethnicity: Ethnic background (optional)
From Sample Creation
When creating samples, you can create subjects on-the-fly:
During Sample Creation
In the sample creation form
Select "Create New Subject" option
Enter subject information inline
Subject is created and linked to the sample
From Order Wizard
The Order Creation Wizard allows subject creation:
During Order Setup
When configuring samples
Choose "Create New Subject"
Enter subject details
Subject is created and associated with the order
Subject Information Fields
Required Fields
Subject ID: Unique identifier within the workspace
First Name: Patient's given name
Last Name: Patient's family name
Date of Birth: For age calculation and identification
Optional Fields
Middle Name: Additional name information
Gender: Biological sex or gender identity
Ethnicity: Ethnic/racial background
Medical Record Number: Hospital or clinic MRN
External ID: ID from external systems (LIMS, EMR)
Clinical Information
Primary Diagnosis: Main clinical diagnosis
Clinical Notes: Additional clinical information
Phenotype: Observable characteristics
Family History: Relevant family medical history
Previous Testing: Prior genetic testing results
Contact Information
Phone Number: Contact phone (if consented)
Email Address: Contact email (if consented)
Address: Mailing address (if needed)
Emergency Contact: Emergency contact information
Subject ID Management
Auto-Generated IDs
System generates unique IDs automatically
Format:
SUB_YYYYMMDD_001,SUB_YYYYMMDD_002, etc.Ensures uniqueness within workspace
Can be customized by administrators
Custom IDs
Enter your own subject identifier
Must be unique within workspace
Follow institutional naming conventions
Common formats: Patient ID, MRN, study ID
ID Validation
System checks for duplicates
Prevents ID conflicts
Validates format requirements
Warns about potential issues
Clinical Information
Diagnosis and Phenotype
Enter relevant clinical information:
Primary Diagnosis:
Example: "Hypertrophic cardiomyopathy"Clinical Notes:
Example: "36-year-old male with family history of sudden
cardiac death. Presents with chest pain and dyspnea on
exertion. Echo shows LV wall thickness 18mm."Phenotype (HPO terms preferred):
Examples:
- HP:0001639 (Hypertrophic cardiomyopathy)
- HP:0001645 (Sudden cardiac death)
- HP:0002094 (Dyspnea)Family History
Document relevant family medical history:
Structured Format:
Father: Deceased age 45, sudden cardiac death
Mother: Alive, hypertension
Sibling 1: Alive, no known cardiac issues
Maternal grandfather: Deceased, heart attack age 60
Previous Testing
Record any prior genetic testing:
Test History:
Date: 2023-01-15
Test: Cardiomyopathy panel
Laboratory: External Lab Inc.
Results: No pathogenic variants identified
Notes: Limited panel, 50 genes tested
Privacy and Consent
Data Privacy
Subject data is protected and encrypted
Access controlled by workspace permissions
Activity logging tracks all access
Comply with institutional privacy policies
Consent Management
Track consent status for:
Genetic Testing: Consent for current analysis
Data Storage: Long-term data retention
Research Use: Use of data for research
Data Sharing: Sharing with external parties
Re-contact: Permission to contact with results
De-identification
For research use:
Remove or encrypt identifying information
Use study-specific IDs
Follow IRB requirements
Maintain mapping separately if needed
Family Relationships
Pedigree Information
Link related subjects:
Family Structure:
Proband: Primary affected individual
Parents: Mother and father
Siblings: Brothers and sisters
Children: Offspring
Extended Family: Grandparents, aunts, uncles
Relationship Links
Create family connections:
During Subject Creation
Select existing family members
Define relationship type
System creates bidirectional links
After Subject Creation
Edit subject record
Add family relationships
Search for existing subjects
Inheritance Patterns
Document expected inheritance:
Autosomal Dominant: Vertical transmission
Autosomal Recessive: Horizontal pattern
X-linked: Male predominance
Mitochondrial: Maternal inheritance
De novo: New mutation
Subject Management
Editing Subject Information
To modify subject records:
Find the Subject
Navigate to Subjects dashboard
Search by name or ID
Click on subject name
Edit Information
Click "Edit Subject" button
Modify fields as needed
Add clinical notes or update diagnosis
Save Changes
Click "Save" to persist changes
Changes are logged for audit trail
Notifications sent if configured
Merging Subjects
If duplicate subjects exist:
Identify Duplicates
System may flag potential duplicates
Manual review and confirmation required
Merge Process
Select primary subject record
Choose information to keep/merge
System combines associated samples and data
Verify Merge
Review merged record for accuracy
Check associated samples and orders
Update any references as needed
Deleting Subjects
Subject deletion has restrictions:
When Deletion is Allowed:
No associated samples
No associated orders or reports
No family relationships
User has appropriate permissions
When Deletion is Blocked:
Active samples exist
Orders reference the subject
Reports include the subject
Family relationships exist
Integration with Samples
Linking Samples
Subjects are connected to samples:
Automatic Linking:
During sample creation
Subject is selected or created
Bidirectional relationship established
Manual Linking:
Edit existing sample
Change or add subject association
System validates the relationship
Sample Overview
In subject details, view:
All associated samples
Sample types (blood, tissue, etc.)
Collection dates
Processing status
File associations
Best Practices
Data Quality
Consistent Naming: Follow naming conventions
Complete Information: Fill in all relevant fields
Accurate Demographics: Verify personal information
Clinical Relevance: Include pertinent clinical data
Privacy Protection
Minimal Information: Collect only necessary data
Secure Storage: Use encrypted, secure systems
Access Control: Limit access to authorized users
Audit Trails: Monitor all data access
Documentation
Clinical Notes: Document relevant clinical information
Test History: Record previous testing
Family History: Include relevant family medical history
Consent Status: Track all consent permissions
Subject created successfully? Continue to Managing Samples to learn about linking biological samples to subjects.
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