Powered by OpenAIRE graph
Found an issue? Give us feedback
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/ ZENODOarrow_drop_down
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Software . 2026
Data sources: ZENODO
ZENODO
Software . 2026
Data sources: Datacite
ZENODO
Software . 2026
Data sources: Datacite
versions View all 2 versions
addClaim

imgag/ngs-bits: 2026_06

Authors: Marc Sturm; Alexandr Chernov; Leon Schütz; Alexander Ott; Axel Gschwind; c-schroeder; Florian Lenz; +11 Authors

imgag/ngs-bits: 2026_06

Abstract

Changes: removed Qt5 support added tools: NGSDExportSpliceAI, NGSDImportCSpec, NGSDTransferReportConfig, SampleIdentity, TranscriptToProtein, TsvAnnotate, TsvTo, VcfAnnotateFrequency, VcfMerge BedAnnotateFreq: changed default for -min_mapq from 1 to 20 BedIntersect: added parameter -annotation NGSDExportGenes: added gnomAD pli column NGSDExportAnnotationData: Gene info entries now contains only keys with a value TrioMendelianErrors: added parameter -dot_as_wt UpdHunter: added parameter -var_use_special_calls and fixed bug in handling of exclude regions. VcfAnnotateFromBed: added parameter -desc VcfFilter: added parameters -info_flags and -info_flags_exclude NGSD changes: added table user_action_permissions for action permissions of restricteed users in GSvar added table analysis_time for tracking analysis times of megSAP analyses added table report_configuration_failed_transfer for manually fixing report configs that could not be transferred from one sample to another automaticalls added table db_import_info to track version/date of database imports into NGSD added table cspec_data for gene-specific guidelines for variant interpretation table geneinfo_germline: added field gnomad_pli table somatic_cnv_callset: made field ps_normal_id nullable to allow import of tumor-only variants table somatic_snv_callset: made field processed_sample_id_normal nullable to allow import of tumor-only variants table repeat_expansion: added field min_pathogenic_hom to allow lower cutoff if the repeat expansion is homozygous Full Changelog at: https://github.com/imgag/ngs-bits/compare/2025_12...2026_06 Note: Please do not use the auto-generated 'Source code' packages - they will not work!

Related Organizations
  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average