Showing 25 of 220 results

• Software

  released

  APEX

  APEX is a toolkit for analysis of molecular quantitative trait loci (xQTLs), such as mRNA expression or methylation levels. It performs cis and trans analysis, single- or multiple-variant analysis, and single-study or meta-analysis.

• Software

  released

  BetaCells cytokines T1D — source

  A custom software used for SNP selex.

  Software type: variant annotation

• Software

  released

  MPRAflow — source

  This pipeline processes sequencing data from Massively Parallel Reporter Assays (MPRA) to create count tables for candidate sequences tested in the experiment.

• Software

  released

  combined S2G strategy (cS2G) — source

  Codes to replicate the results and Figures of "Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity".

  Software type: variant annotation

• Software

  released

  Single Cell ATAC Software — source

  Cell Ranger ATAC and Loupe Browser are software applications for analyzing and visualizing Single Cell ATAC data produced by the 10x Genomics Chromium platform.

  Software type: peak caller

• Software

  released

  Association testing and fine mapping: eQTL-Catalogue/qtlmap — source

  Association testing and fine mapping: eQTL-Catalogue/qtlmap. eQTL-Catlogue/qtlmap is a bioinformatics analysis pipeline used for QTL Analysis.

  Software type: variant annotation

• Software

  released

  Genotype QC and imputation: eQTL-Catalogue/genimpute — source

  Genotype QC and imputation: eQTL-Catalogue/genimpute. Genotype imputation and quality control workflow used by the eQTL Catalogue.

  Software type: quality metric

• Software

  released

  Gene expression QC and normalisation: eQTL-Catalogue/qcnorm — source

  Gene expression QC and normalisation: eQTL-Catalogue/qcnorm. This pipeline will run QC measures of both genotype and phenotype data and will normalise quantified phenotypes.

  Software type: transcript identification

• Software

  released

  RNA-seq quantification: eQTL-Catalogue/rnaseq — source

  RNA-seq quantification: eQTL-Catalogue/rnaseq. nfcore/rnaseq is a bioinformatics analysis pipeline used for RNA sequencing data.

  Software type: quantification

• Software

  released

  ptools_bin — source

  A data-sanitization software allowing raw functional genomics reads to be shared while minimizing privacy leakage, enabling principled privacy-utility trade-offs.

• Software

  released

  getVariantOverlap.py — source

  Perform filtering strategies to prepare prediction files for downstream variant overlap analysis

• Software

  released

  predict.py — source

  Compute ABC score

• Software

  released

  run.neighborhoods.py — source

  ```run.neighborhoods.py``` will count DNase-seq (or ATAC-seq) and H3K27ac ChIP-seq reads in candidate enhancer regions. It also makes GeneList.txt, which counts reads in gene bodies and promoter regions. Replicate epigenetic experiments should be included as comma delimited list of files. Read counts in replicate experiments will be averaged when computing enhancer Activity.

• Software

  released

  makeCandidateRegions.py

  makeCandidateRegions.py will take as input the narrowPeak file produced by MACS2 and then perform the following processing steps: 1. Count DNase-seq reads in each peak and retain the top N peaks with the most read counts 2. Resize each of these N peaks to be a fixed number of base pairs centered on the peak summit 3. Remove any regions listed in the 'blocklist' and include any regions listed in the 'includelist' 4. Merge any overlapping regions

• Software

  released

  sambamba — source

  Sambamba is a high performance highly parallel robust and fast tool (and library), written in the D programming language, for working with SAM and BAM files. Because of its efficiency is an important work horse running in many sequencing centres around the world today.

• Software

  released

  MAGeCK — source

  Model-based Analysis of Genome-wide CRISPR-Cas9 Knockout is a computational tool to identify important genes from the recent genome-scale CRISPR-Cas9 knockout screens technology

• Software

  released

  CisGenome — source

  An integrated tool for tiling array, ChIP-seq, genome and cis-regulatory element analysis

• Software

  released

  E-RANGE — source

  E-RANGE is our Python package for doing RNA-seq and ChIP-seq (hence the "dual-use"), and is a descendant of the ChIPSeq mini peak finder (Johnson, 2007).

• Software

  released

  EMMAX — source

  EMMAX is a statistical test for large scale human or model organism association mapping accounting for the sample structure. In addition to the computational efficiency obtained by EMMA algorithm, EMMAX takes advantage of the fact that each loci explains only a small fraction of complex traits, which allows us to avoid repetitive variance component estimation procedure, resulting in a significant amount of increase in computational time of association mapping using mixed model.

• Software

  released

  unknown

  Undefined software.

• Software

  released

  ProbABEL — source

  ProbABEL is a tool for genome-wide association analysis of imputed genetic data. It is part of the GenABEL Suite of tools developed by within the GenABEL Project.

• Software

  released

  bimbam — source

  software for Bayesian IMputation-Based Association Mapping The program BIMBAM implements methods for assocation mapping, based on those described in Servin, B and Stephens, M (2007). Imputation-based analysis of association studies: candidate genes and quantitative traits. PLoS Genetics, 2007. BIMBAM can handle both large association studies (e.g., genome scans) and smaller studies of candidate genes/regions.

• Software

  released

  snap — source

  The SNAP application has been taken down due to a lack of resources to support it and because the data sets used were increasingly dated.

• Software

  released

  haploview — source

  Haploview is designed to simplify and expedite the process of haplotype analysis by providing a common interface to several tasks relating to such analyses.

• Software

  released

  MACH2QTL — source

  MACH2QTL is a tool for QTL analysis of imputed dosages or posterior probabilities.