STARNET macrophage gene expression QTL#
STARNET is an RNA expression study of various disease-relevant tissues obtained from living patients with cardiovascular disease (CVD). The inclusion criterion for patients was eligibility for coronary artery by-pass graft (CABG) surgery. Please refer to this document for an overview of the STARNET project.
Contact#
- Contact Name: Travyse Edwards
- Contact Email: travyse.edwards@icahn.mssm.edu
- Contact Affiliation: Icahn School of Medicine at Mount Sinai
- Contact Role: Travyse performed QC & QTL analysis
Study Overview#
- Study name : STARNET Macrophage eQTL
- Study Description : Stockholm-Tartu Atherosclerosis Reverse Network Engineering Task (STARNET) macrophage eQTL analysis summary statistics generated using the FGC xQTL pipeline.
Analysis Details#
Sample Size Tracking Through Analysis Workflow#
| Step | Sample Size |
|---|---|
| Raw Expression Data | 480 |
| QC’d Expression Data | 479 |
| After overlapping with STARNET genotype data | 471 |
Quality Control and Normalization Details for Phenotype Data#
For quality control performed for the macrophage gene expression dataset, please refer to this markdown document.
Genotype Parameters#
| Parameter | Value |
|---|---|
| Minimum Minor Allele Freq | 0.01 |
| Maximum Minor Allele Freq | 0.99 |
| Kinship Coefficient for Related Individuals | 0.0625 |
| Maximum Missingness Per Variant | 0.1 |
| Maximum Missingness Per Sample | 0.1 |
| Hardy-Weinberg Equilibrium Filter | 1e-15 |
Covariate Parameters#
PCA Analysis:
| Parameter | Value |
|---|---|
| Minor Allele Freq for PCA | 0.01 |
| LD Pruning: Window | 0.1 |
| LD Pruning: Shift | 0.1 |
| LD Pruning: Window | 0.1 |
| Number of PCs | 13 |
PEER Analysis:
| Parameter | Value |
|---|---|
| Max Iterations | 1000 |
Prior Parameter: Alpha_a | 0.001 |
Prior Parameter: Alpha_b | 0.1 |
Prior Parameter: Eps_a | 0.1 |
Prior Parameter: Eps_b | 10.0 |
Tolerance Parameter: tol | 0.001 |
Tolerance Parameter: var_tol | 1e-5 |
| Convergence Mode | “fast” |
Final Covariates: Sex, Age, PCs (13), PEER Factors (60)
PCA Method for Latent Factor Identification (Using Marchenko-Pastur Method):
TBD
TensorQTL Parameters#
| Parameter | Value |
|---|---|
| Cis Window | 1,000,000 |
| Minor Allele Count Cutoff | 0 |
| Minor Allele Freq Cutoff | 0 |
Links to QTL analysis notebooks#
Currently rearranging this section and below
The notebooks in this folder,
https://github.com/cumc/fungen-xqtl-analysis/tree/main/analysis/Marcora_MSSM/STARNET
contain the commands and some of the results visualizations produced by the pipeline when analyzing the STARNET macrophage RNA-seq expression data.
STARNET_Analysis_Complete.ipynbprovides information about the imputation of genotype, summary from other preprocessing steps, and a look into the cisQTL association scan.genotype_preprocessing.ipynbshows the commands used for genotype processing and preparation steps.- Mostly contains the commands used to run the pipeline, but includes some pre-pipeline data wrangling.
- This includes QC, PCA, and GRM steps
phenotype_preprocessing.ipynbshows the commands used for the phenotype data processing and preparation steps.- As above, it mostly contains the commands used to run the pipeline, but includes some pre-pipeline data wrangling.
- This includes quantification steps, QC, annotation, and residual expression steps
covariate_preprocessing.ipynbshows the commands used for the covariate data processing and preparation steps.- This includes factor analysis steps
association_scan_cis.ipynbprovides information about the TensorQTL cis association scan.
Wang lab:
- TensorQTL.ipynb provides the pipeline to generate TensorQTL cis association results for all QTLs.
- STARNET_eQTL provides information about the input files for TensorQTL cis association in the base_params variable in [generate_command_1].
Dataset Details#
- Number of cases :
- Number of controls :
- Annotation information :
- Genotype level imputation :
- Imputation Panel :
Path(s) to Genotype Matrix#
- Goate Lab (Minerva),
/sc/arion/projects/load/users/edwart10/projects/xQTL-STARNET-Analysis-05-24-2022/Data-Pre-Processing/Genotype-Data-Pre-Processing/output/genotype_by_chrom/
$ ls -lh /sc/arion/projects/load/users/edwart10/projects/xQTL-STARNET-Analysis-05-24-2022/Data-Pre-Processing/Genotype-Data-Pre-Processing/output/genotype_by_chrom/*.{bed,bim,fam}
-rw-r-xr--+ 1 edwart10 LOAD 58M May 28 2022 /sc/arion/projects/load/users/edwart10/projects/xQTL-STARNET-Analysis-05-24-2022/Data-Pre-Processing/Genotype-Data-Pre-Processing/output/genotype_by_chrom/STARNET_qced.10.bed
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-rw-r-xr--+ 1 edwart10 LOAD 50M May 28 2022 /sc/arion/projects/load/users/edwart10/projects/xQTL-STARNET-Analysis-05-24-2022/Data-Pre-Processing/Genotype-Data-Pre-Processing/output/genotype_by_chrom/STARNET_qced.9.bed
-rw-r-xr--+ 1 edwart10 LOAD 15M May 28 2022 /sc/arion/projects/load/users/edwart10/projects/xQTL-STARNET-Analysis-05-24-2022/Data-Pre-Processing/Genotype-Data-Pre-Processing/output/genotype_by_chrom/STARNET_qced.9.bim
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- Goate lab,
/sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/
$ ls -lh /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/*.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.8M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr10.bed.gz
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-rw-r-xr--+ 1 edwart10 LOAD 2.3M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr16.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 2.8M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr17.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 723K Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr18.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 3.0M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr19.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 4.6M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr1.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.2M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr20.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 489K Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr21.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.2M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr22.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 3.0M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr2.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 2.5M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr3.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.6M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr4.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 2.0M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr5.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 2.4M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr6.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 2.2M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr7.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.6M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr8.bed.gz
-rw-r-xr--+ 1 edwart10 LOAD 1.8M Apr 20 12:00 /sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/data-preprocessing/phenotype/per_chrom/STARNET.tpm.gct.bed.chr9.bed.gzPath(s) to Covariate Matrix#
- Goate lab,
/sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/no-status/data-preprocessing/covariates/STARNET.MP.cov.merged.gz
-rw-r-x---+ 1 edwart10 LOAD 204K May 4 09:57 STARNET.MP.cov.merged.gzPath(s) to cis-eQTL Results#
- Goate lab,
/sc/arion/projects/load/users/edwart10/projects/04-19-2023-STARNET-PCA-Replication/output/no-status/association_scan/TensorQTL/Marchenko-Pastur-Method
$ ls -lh *.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 995M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.10.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.3G May 6 11:49 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.11.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.4G May 6 11:48 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.12.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 516M May 6 11:45 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.13.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 908M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.14.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 820M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.15.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.3G May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.16.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.5G May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.17.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 452M May 6 11:45 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.18.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.8G May 6 11:47 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.19.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 2.3G May 6 11:47 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.1.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 638M May 6 11:45 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.20.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 282M May 6 11:45 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.21.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 636M May 6 11:45 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.22.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.6G May 6 11:47 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.2.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.4G May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.3.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 935M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.4.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.1G May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.5.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.7G May 6 11:47 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.6.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 1.2G May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.7.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 915M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.8.norminal.cis_long_table.txt
-rw-r-xr--+ 1 edwart10 LOAD 922M May 6 11:46 STARNET.tpm.gct.bed.per_chrom_STARNET.MP.cov.merged.9.norminal.cis_long_table.txtPath(s) to cis-QTL association testing#
output of TensorQTL.ipynb
s3://statfungen/ftp_fgc_xqtl/analysis_result/cis_association/STARNET/eQTL/
Path(s) to Fine-Mapping via SuSiE#
TBD
Path(s) to Fine-Mapping via SuSiE-RSS#
TBD