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Molecular-barcoded deep (>1000X) gene panel sequencing showed enrichment of sSNVs and sIndels in cancer driver genes in AD brain, with recurrent mutations in clonal hematopoiesis genes and up to 40% of microglia carrying pathogenic sSNVs.

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experiment Created: By: experiment_extractor Quality: 50% ✓ SciDEX ID: experiment-exp-6ca747a7175f
🧫 Experiment Protocol Genetic Associationproposed
SUMMARY
Molecular-barcoded deep (>1000X) gene panel sequencing showed enrichment of sSNVs and sIndels in cancer driver genes in AD brain, with recurrent mutations in clonal hematopoiesis genes and up to 40% of microglia carrying pathogenic sSNVs.
METHODOLOGY NOTES
Molecular-barcoded deep sequencing (>1000X coverage); analysis of sSNVs and sIndels in cancer driver genes
N = {'case': None, 'total': 311, 'units': 'samples', 'control': None}tissue: prefrontal cortexspecies: homo_sapiens
Related Entities
cancer driver genes; CSF1R; clonal hematopoiesis genes
Metadatasource: {'pmid': '38260600', 'type': 'paper', 'e
source{'pmid': '38260600', 'type': 'paper', 'extracted_by': 'llm_extraction_v1'}
tissueprefrontal cortex
specieshomo_sapiens
summaryMolecular-barcoded deep (>1000X) gene panel sequencing showed enrichment of sSNVs and sIndels in cancer driver genes in AD brain, with recurrent mutations in clonal hematopoiesis genes and up to 40% o
sample_size{'case': None, 'total': 311, 'units': 'samples', 'control': None}
model_systemin_vivo
_schema_version1
experiment_typegenetic_association
methodology_notesMolecular-barcoded deep sequencing (>1000X coverage); analysis of sSNVs and sIndels in cancer driver genes
replication_statusreplicated
extraction_metadata{'needs_review': False, 'extraction_date': '2026-04-28T06:18:28.445726+00:00', 'extraction_notes': '', 'extraction_confidence': 0.5}
statistical_evidence{'p_value': None, 'test_type': None, 'effect_size': {'value': None, 'measure': 'enrichment', 'direction': 'increased'}}
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