Pathways, Centrality, and Regulation in Developmental Disorders
summary
Defines pathway centrality as all-pairs shortest-path betweenness from GWAS/disease genes to differentially expressed genes on PPI and directed regulatory networks, then scores gene sets (GO, MPO) by group betweenness and tests significance by sampling the network 2-core degree-matched sampling. Finds immune/inflammation hits across BPD, asthma, COPD, plus specific candidates: NF-κB mediation, insulin-receptor signaling, and disrupted vasculogenesis and bone ossification in BPD. Builds a partial least squares age-prediction per-pathway to flag temporal dysregulation; experiments for validation are ongoing.
AI-written summary · about
chapters (22)
- 0:00Intro
- 0:41Molecular Causes of Prematurity Complications
- 3:30Betweenness Centrality and Bottlenecks in Molecular Networks
- 4:48Group Centrality in Molecular Networks
- 6:25Pathway Centrality in Disease Networks
- 7:41Our Data Sets
- 9:53Disease Genes
- 10:41Differential Expression
- 11:40Assessing significance
- 13:03PPI Results: Common GO Processes
- 13:42Regulatory Network Results: GO
- 16:14PPI: Common MPO Phenotypes
- 16:27Some new observations
- 17:29Down syndrome controls
- 18:22BPD: developmental delays?
- 19:26BPD: abnormal vasculogenesis
- 22:50TEMPO: finding developmental dysregulation of expression
- 25:07Developmentally inappropriate expression of vasculogenesis pathway in BPD
- 25:50Developmentally inappropriate expression of ossification pathway in BPD
- 26:13Vasculogenesis in BPD
- 27:22Conclusions
- 27:42Acknowledgements
related talks
34mLongitudinal Phenotypes and Disease Trajectories at Population Scale
45mComplexity in Living Systems
31mDiverse High Throughput Technologies in Cancer Research and Synthetic Biology
29mDeveloping and Delivering Personalized Polygenic Scores at Scale
01h 51mMorning Session: Genomics, Medicine, Epidemiology and Data Interpretation
27mMining social media data of people with rare diseases
20mData-Driven Approach in Treating a Medical Condition
28mThe Rewards and Challenges of Constructing Patient Registries in Mexico
