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awesome-complex-trait-genetics
A list of awesome tools for complex trait genetics.
https://github.com/michelnivard/awesome-complex-trait-genetics
Last synced: about 18 hours ago
JSON representation
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genetic architecture
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- LDSC
- LDSR - memory summary statistics.
- LDSR - memory summary statistics.
- GCTB - wide SNPs. It was developed to simultaneously estimate the joint effects of all SNPs and the genetic architecture parameters for a complex trait. There are now extensions to estimate the same bayesian linear model parameters based on summary data.
- GCTA - wide Complex Trait Analysis) is a software package initially developed to estimate the proportion of phenotypic variance explained by all genome-wide SNPs for a complex trait.
- RHE-mc/GENIE - mc is a method to estimate the proportion of phenotypic variance explained by SNPs, and GENIE extends this to model GxE effects
- RHE-mc/GENIE - mc is a method to estimate the proportion of phenotypic variance explained by SNPs, and GENIE extends this to model GxE effects
- BOLT-LMM/BOLT-REML - LMM software package currently consists of two main algorithms, the BOLT-LMM algorithm for mixed model association testing, and the BOLT-REML algorithm for variance components analysis (i.e., partitioning of SNP-heritability and estimation of genetic correlations).
- LDAK/SumHer/PCGC - correlation genotype-correlation) Regression is an alternative to REML when estimating heritability for binary traits (i.e., diseases).
- BOLT-LMM/BOLT-REML - LMM software package currently consists of two main algorithms, the BOLT-LMM algorithm for mixed model association testing, and the BOLT-REML algorithm for variance components analysis (i.e., partitioning of SNP-heritability and estimation of genetic correlations).
- LDAK/SumHer/PCGC - correlation genotype-correlation) Regression is an alternative to REML when estimating heritability for binary traits (i.e., diseases).
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Univariate models (heritability/poligenicity/stratified/geneset enrichment etc)
- i-LDSC - LD score (i-LDSC) regression: Model an additional score that measures the amount of non-additive genetic variation that is tagged by each variant in the data.
- i-LDSC - LD score (i-LDSC) regression: Model an additional score that measures the amount of non-additive genetic variation that is tagged by each variant in the data.
- ACLR
- HAMSTA
- MAGMA - set analysis of GWAS data.
- MAGMA - set analysis of GWAS data.
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Genetic correlation (LD score derivatives/extensions)
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Univariate models (heritability/poligenicity/stratified/geneset enrichment etc)
- HDL - Definition Likelihood (HDL) is a likelihood-based method for estimating genetic correlation using GWAS summary statistics. Compared to LD Score regression (LDSC), It reduces the variance of a genetic correlation estimate by about 60%.
- HDL - Definition Likelihood (HDL) is a likelihood-based method for estimating genetic correlation using GWAS summary statistics. Compared to LD Score regression (LDSC), It reduces the variance of a genetic correlation estimate by about 60%.
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Stratified/local genetic correlatons
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Ancestry aware Genetic correlations:
- s-ldxr - LDXR` is a method to stratify squared trans-ethnic genetic correlation by genomic annotations from GWAS summary statistics.
- s-ldxr - LDXR` is a method to stratify squared trans-ethnic genetic correlation by genomic annotations from GWAS summary statistics.
- Popcorn
- Popcorn
- mama - based command line tool that meta-analyzes GWAS summary statistics generated from distinct ancestry groups.
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Model trait relationships beyond correlation
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Genetic SEM/Factor models
- GenomicSEM
- GenomicSEM
- GUIDE
- FactorGO
- GNA
- FactorGO
- GNA
- partialLDSC - package to estimate partial genetic correlations from GWAS summary statistics, and compare them to their unadjusted counterparts, to quantify the contribution of a given confounder in explaining genetic similarity between conditions.
- partialLDSC - package to estimate partial genetic correlations from GWAS summary statistics, and compare them to their unadjusted counterparts, to quantify the contribution of a given confounder in explaining genetic similarity between conditions.
- trivariate MiXeR
- Gsens
- trivariate MiXeR
- Gsens
- bivarite MiXeR
- bivarite MiXeR
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Two sample Mendelian Randomisation
- TwoSampleMR
- TwoSampleMR
- SMR - level data from GWAS and expression quantitative trait loci (eQTL) studies
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MR/Genetic architecture hybrid models
- lhcMR - directional causal estimation between a pair of traits, while accounting for the presence of a potential heritable confounder acting on the pair.
- lhcMR - directional causal estimation between a pair of traits, while accounting for the presence of a potential heritable confounder acting on the pair.
- CAUSE
- CAUSE
- LCV
- LCV
- MR-cML - MA, applicable to GWAS summary data.
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Mendelian randomization in _cis_
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Colocalisation/finemapping of causal variants
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Mendelian randomization in _cis_
- coloc
- fastENLOC
- coloc
- fastENLOC
- FINEMAP - wide association studies.
- polyfun - informed fine-mapping, **PolyLoc** for polygenic localization of complex trait heritability.
- OPERA - level data.
- SuSiEx - population finemapping using summary statistics and LD reference panels.
- SharePro - level approach to integrate LD modeling and colocalization assessment to account for multiple causal variants in colocalization analysis.
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gene-level analysis (TWAS)
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Simulation
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Mendelian randomization in _cis_
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Genomic data wrangling
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Mendelian randomization in _cis_
- HAIL - source, general-purpose, Python-based data analysis tool with additional data types and methods for working with genomic data.
- bigsnpr
- ukbrapR - K-B-wrapper') is an R package for working in the UK Biobank Research Analysis Platform (RAP). The aim is to make it quicker, easier, and more reproducible.
- MungeSumstats
- tidyGWAS
- gwasRtools
- qgg - scale genetic and phenotypic data while **gact** is designed for establishing and populating a comprehensive database focused on genomic associations with complex traits, provies R implementations of popular follow up analysis (LDscore regresison, MAGMA, VEGAS, PoPS, etc).
- bcftools
- GenomicRanges
- bedtools - army knife of tools for a wide-range of genomics analysis tasks. A very fast and easy way to intersect, merge, count, complement, and shuffle genomic intervals from multiple files in widely-used genomic file formats such as BAM, BED, GFF/GTF, VCF
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Polygenic scores
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Mendelian randomization in _cis_
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GWAS result repositories (preferably with an API)
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Mendelian randomization in _cis_
- ieugwasr
- GWAScatalog API - 11-20, the GWAS Catalog contains 7083 publications, 692444 top associations and 96947 full summary statistics.
- GWAS atlas - based) results, SNP heritability and genetic correlations with other GWAS in the database.
- S4 programs
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Online tools
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Mendelian randomization in _cis_
- gnomAD browser
- Open Targets Platform
- genebass - based association statistics, made available to the public. The dataset encompasses 4,529 phenotypes with gene-based and single-variant testing across 394,841 individuals with exome sequence data from the UK Biobank.
- All by All - based and single-variant associations across nearly 250,000 whole genome sequences
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Programming Languages
Categories
Model trait relationships beyond correlation
27
genetic architecture
17
Genomic data wrangling
10
Genetic correlation (LD score derivatives/extensions)
9
Colocalisation/finemapping of causal variants
9
GWAS result repositories (preferably with an API)
4
Online tools
4
Polygenic scores
3
gene-level analysis (TWAS)
2
Simulation
1
Sub Categories
Mendelian randomization in _cis_
35
Genetic SEM/Factor models
15
Univariate models (heritability/poligenicity/stratified/geneset enrichment etc)
8
MR/Genetic architecture hybrid models
7
Ancestry aware Genetic correlations:
5
Two sample Mendelian Randomisation
3
Stratified/local genetic correlatons
2
Keywords
gwas
12
bioinformatics
5
gwas-summary-statistics
4
summary-statistics
3
genetics
3
genomics
2
integrative-analysis
2
genetic-association-analysis
2
colocalization
2
bioinformatics-analysis
2
variational-inference
2
jax
2
ld-score-regression
2
heritability-estimation
2
heritability
2
gwas-tools
2
epistasis
2
population-genetics
2
linkage-disequilibrium
2
r-package
2
r
2
big-data
1
vcf
1
prs
1
vcf-files
1
standardisation
1
qtl
1
database-api
1
bioconductor-package
1
statistical-methods
1
snp-data
1
software
1
python
1
population-structure-inference
1
polygenic-scores
1
parallel-computing
1
fine-mapping
1
statistical-genetics
1
memory-mapped-file
1
hail
1