IMMerge
IMMerge merges large Variant Call Format (VCF) genotype files and preserves combined imputation quality information for merged genomic datasets.
Key Features:
- Scalability: Handles large-scale VCF genotype datasets, including data processed in batches.
- Multiprocessing: Uses Python's multiprocessing to parallelize merging and reduce computational time.
- Imputation quality handling: Combines imputation quality scores across datasets using Fisher's z transformation to correctly represent imputation measures in merged files.
Scientific Applications:
- Genome-wide association studies (GWAS): Supports merging genotype data and imputation quality metrics for combined-cohort GWAS analyses.
- Population genetics: Enables integration of batch-processed VCFs for population-level allele frequency, diversity, and structure studies.
- Personalized medicine: Facilitates consolidation of genotyped cohorts and imputation metrics to support variant interpretation in clinical and translational contexts.
- Downstream genomic analyses: Preserves imputation integrity to support downstream analyses that depend on accurate genotype and imputation quality information.
Methodology:
Merges VCF genotype files using parallel processing implemented with Python's multiprocessing and combines imputation quality scores via Fisher's z transformation.
Topics
Details
- License:
- MIT
- Cost:
- Free of charge
- Tool Type:
- command-line tool
- Programming Languages:
- Python
- Added:
- 2/6/2023
- Last Updated:
- 2/6/2023
Operations
Publications
Zhu W, Chen H, Petty AS, Petty LE, Polikowsky HG, Gamazon ER, Below JE, Highland HM. IMMerge: merging imputation data at scale. Bioinformatics. 2022;39(1). doi:10.1093/bioinformatics/btac750. PMID:36413071. PMCID:PMC9805583.
PMID: 36413071
PMCID: PMC9805583
Funding: - National Institutes of Health: R01DC017175, R01GM133169, R01HG010297, R01HG011138, R01HL142302, R01HL142825, R01HL151152, R01MH126459, R56AG068026, RF1AG61351