Genetic Information Variables
Genetic Information - Variable Definition Table:
Field Name |
Description |
Field Values |
|---|---|---|
| Prodromal Category | At-risk for PD individuals having the same diagnosis as healthy controls with enrollment criterion hyposmia or REM Sleep Behavior Disorder. The rest are Unknown/Not collected as enrollment criterion |
Unknown/Not collected REM Sleep Behavior Hyposmia |
| Genetic Status Enrollment | Participant genetic status based on PD-associated mutations (LRRK2, GBA, or SNCA) at enrollment |
Unknown/Not collected LRRK2 positive GBA positive SNCA positive |
| Genetic Status WGS | Participant genetic status based on the determined by Whole Genome Sequencing selected PD-associated variants (LRRK2 G2019S, LRRK2 R1441G, GBA N370S, and SNCA A53T) |
Null LRRK2 G2019S GBA N370S LRRK2 R1441G SNCA A53T GBA N370S; LRRK2 |
Tables that Reference this Variable:
- Enrollment
Data Type Information:
Field Name |
Type |
Mode |
|---|---|---|
| prodromal_category | STRING | NULLABLE |
| genetic_status_enrollment | STRING | NULLABLE |
| genetic_status_wgs | STRING | NULLABLE |
Curation Notations:
Query Definition
Clinical Data Forms Queried (available as a BigQuery Table and csv File)
Criteria
Query
Clinically_Reported_Genetic_Status.genetic_status_enrollment != 'Unknown/Not collected as enrollment criterion'
Clinical Data Forms Queried (available as a BigQuery Table and csv File)
Clinically_Reported_Genetic_Status
Criteria
genetic_status_enrollment != 'Unknown/Not collected as enrollment criterion'
Query
SELECT left(participant_id, 2) Cohort, count(distinct participant_id) Count from `amp-pd-research.2021_v2_5release_0510_tier2.Clinically_Reported_Genetic_Status` WHERE genetic_status_enrollment != 'Unknown/Not collected as enrollment criterion' GROUP BY Cohort ORDER BY Cohort