🧫
Nation-wide NGS-based genetic screening of LGMD patients in US
active
experiment
Created: 2026-04-10T23:12:20
By: experiment_extractor
Quality:
95%
✓ SciDEX
ID: experiment-exp-016edb6e-a692-4df5-a2ca-b
🧫 Experiment Protocol
Genetic Associationproposed
N = 4656
Related Entities
▸Metadata
| _origin | {'url': None, 'type': 'internal', 'tracked_at': '2026-04-10T23:12:20.326102'} |
| p_value | None |
| protocol | Next-generation sequencing (NGS)-based gene panel testing of 35 LGMD-associated or LGMD-like NMD-associated genes conducted in CLIA-CAP certified Emory Genetics Laboratory over 2-year recruitment peri |
| effect_size | None |
| sample_size | 4656 |
| source_pmid | 30564623 |
| extracted_at | 2026-04-10T16:12:20.323398 |
| _schema_version | 1 |
| experiment_type | genetic_association |
| success_criteria | Molecular diagnosis establishment and gene variant identification in clinically suspected LGMD patients |
| expected_outcomes | Determine relative prevalence of LGMD subtypes, establish diagnostic yield, and characterize genetic etiology in US population |
| statistical_methods | Confidence intervals calculated for diagnostic yield |
📊 Evidence Profile
Foundational
Evidence Balance
+0%
Certainty
80%
Debates
0
Incoming
16
Outgoing
9
0 supporting
0 contradicting
0 neutral
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