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Cleansumstats: Converting GWAS sumstats to a common format to facilitate downstream applications

Authors: Gadin, Jesper Robert; Zetterberg, Richard; Meijsen, Joeri; Schork, Andrew Joseph;

Cleansumstats: Converting GWAS sumstats to a common format to facilitate downstream applications

Abstract

[1.5.4] - 2022-12-15 Added Citation file in preparation for public release. [1.5.3] - 2022-09-13 Added Minimac4 as an option for the conversion old to new metadata tool. [1.5.2] - 2022-08-19 Fixed Sumstats lacking available ancestry to not throw an error [1.5.1] - 2022-08-12 Added Possibility to use logP pvalues. stat_neglogP is not a required field anymore. [1.5.0] - 2022-06-30 Added Script that converts metadata files into a delimiter separated table, where: Each metadata field is a column Each row is a single metadata file [1.4.2] - 2022-07-04 Changed Raw input as output no longer default. Can be set in nextflow.config [1.4.1] - 2022-06-27 Fixed The issue for when ORs are 0, and added a more explicit modification of ORU and ORL [1.4.0] - 2022-06-22 Fixed 1000G added allelefrequencies are now flipped correctly. To fix this, there was a substantial rewrite of the stats subworkflow, which has been simplified, with increased performance as well. [1.3.12] - 2022-06-20 Changed .nextflow to only be available in --dev mode, to save space in output [1.3.11] - 2022-06-16 Fixed clean2vcf.sh bug, not recognizing input ref and alt col numbers [1.3.10] - 2022-06-15 Changed The metadata field study_PhenoCode now supports EFO and MONDO codes [1.3.9] - 2022-06-14 Fixed EffectAllele and OtherAllele to also be flipped when flipping the effects in the post-processing cleanflipdirection.sh clean2vcf.sh so that the right REF allele column can be picked out after the changes to cleanflipdirection.sh nextflow lock files to be placed within the output directory to not cause lock file issues when running multiple local jobs Added Cleansumstats version to output metadata. Changed Removed the need to specify cleansumstats version in the input metadata file [1.3.8] - 2022-04-01 Fixed Vcf header to be float instead of integer for sample size to give room for the extra precision of the estimated sample sizes. [1.3.7] - 2022-03-24 Fixed Duplication issue for GRCh35 and GRCh36 builds [1.3.6] - 2022-03-17 Fixed tmp is now automatically created if missing by cleansumstats.sh [1.3.5] - 2022-03-14 Fixed Switched names for two files in details. [1.3.4] - 2022-03-10 Fixed The clean2vcf to use the correct meta info in the vcf for alternative allele requency based sumstats The clean2vcf to use both the population specific AF and 1KG in the format field [1.3.3] - 2022-03-09 Fixed The run file to be run from anywhere also using the -e flag [1.3.2] - 2022-02-23 Fixed The path to README so that it is no longer pointing to the pdf [1.3.1] - 2022-02-22 Added New allowed values e.g., reference panels in the metafile schema [1.3.0] - 2022-02-08 Added New post-processing adding all 5 major pops from 1kgp New post-processing flipping allele direction of effects More options regarding directing and repressing output using nextflow.config Explanation of how to treat .csv input in troubleshooting New instructions in the README.md to set a more flexible write access to the user created tmp/ folder Support for extra paths to search for files in the metafile using -p path1,path2 Support for variant specific information of number of metastudies: col_StudyN Support for two metafile minimum requiriments options, default and library New user options to set tmp and workdirs -b -w New user option to set dev mode -l Automatic cleanup of workdir when not in dev move Changed DSL-1 converted to DSL-2 Updated nextflow in Dockerfile to nextflow-21.12.1-edge-all Improved docs/, but still work to be done Fixed AF information has now support for NA It is now possible to run from anywhere, not only from within the clensumstats repo DIRECTION is now skipped by the awk numeric test General support for NA in r-stat-c-streamer [1.2.0] - 2021-12-08 Added Post-process script that converts from the present output format to a vcf file, mathing column names to https://github.com/MRCIEU/gwas2vcf New file in the details folder explaining the source of each output column New post-process section in docs that is linked to from README.md [1.1.10] - 2021-11-22 Fixed Allele frequency was not sent correctly to r-stats-c-streamer, which returned strange results for the inferred N. [1.1.9] - 2021-11-04 Fixed When no otherAllele was specified, it resulted in no rows from the allele correction process. It all was caused by the shift from the old metadata reader to the new groovy version. In the end resulting in that the path was never taken through the process for when only effect allele exists. [1.1.8] - 2021-11-02 Fixed A previous fix of the advanced chromosome reformatting introduced a bug. The main problem was that we tried to feed two special functions to sumstats-tools, while it can only take one. The solution was to do the manipulation in two steps. [1.1.7] - 2021-10-29 Fixed Mounting system /tmp on image /tmp to not run out of image memory [1.1.6] - 2021-10-29 Fixed Giving no col_* fields in the metadata file is accepted as valid [1.1.5] - 2021-10-29 Fixed Providing study_includedCohorts in the metadata fails with YAML deserialization error Pipeline version output by nextflow does not reflect the actual version in VERSION [1.1.3] - 2021-10-28 Changed Updated cleansumstats.sh to follow dry principle for the nextflow call Remove artifatcs in README.md [1.1.2] - 2021-10-28 Changed Updated output of cleansumstats.sh -h in README.md [1.1.1] - 2021-10-28 Added Version flag -v to cleansumstats.sh Documentation about versioning to docs/developers.md [1.1.0] - 2021-10-28 Added Variable and path test to cleansumstats.sh Prepare-1kgp to cleansumstats.sh Prepare-dbsnp to cleansumstats.sh Changed Moved almost all introduction content to outout docs to make README.md more readable README.md to match the new cleansumstats.sh [1.0.2] - 2021-10-27 Changed Default path for cleansumstats.sh to match with README.md [1.0.1] - 2021-10-26 Fixed Set default testoption=false, which was missing for cleansumstats.sh [1.0.0] - 2021-10-20 Added Major updates from alpha version Many new features including: A more complete stat conversion suite, https://github.com/pappewaio/r-stats-c-streamer 1000 genomes AF added for 5 main populations New metafile format in .yaml Multi-allelics allowed dbsnp prefiltered on duplicated chr:pos pairs and indels three path chr:pos mapping MISSING: a complete OR stat conversions suite Technical features: Docker builder Singularity builder Example data Better documentation test suite (almost complete)

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