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ZENODO
Software . 2021
Data sources: Datacite
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ZENODO
Software . 2021
Data sources: ZENODO
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Clinical-Genomics/scout: MITOMAP annotations support, Splice Junction Tracks and maintenance

Authors: Chiara Rasi; Måns Magnusson; Robin Andeer; Daniel Nilsson; Patrik Grenfeldt; bjhall; Mikael Laaksonen; +14 Authors

Clinical-Genomics/scout: MITOMAP annotations support, Splice Junction Tracks and maintenance

Abstract

[4.32] Added Load and show MITOMAP associated diseases from VCF (INFO field: MitomapAssociatedDiseases, via HmtNote) Show variant allele frequencies for mitochondrial variants (GRCh38 cases) Extend "public" json API with diseases (OMIM) and phenotypes (HPO) HPO gene list download now has option for clinical and non-clinical genes Display gene splice junctions data in sashimi plots Update case individuals with splice junctions tracks Simple Docker compose for development with local build Make Phenomodels subpanels collapsible User side documentation of cytogenomics features (Gens, Chromograph, vcf2cytosure, rhocall) iSort GitHub Action ### Fixed Show other causative once, even if several events point to it Filtering variants by mitochondrial chromosome for cases with genome build=38 HPO gene search button triggers any warnings for clinical / non-existing genes also on first search Fixed a bug in variants pages caused by MT variants without alt_frequency Tests for CADD score parsing function Fixed the look of IGV settings on SNV variant page Cases analyzed once shown as rerun Missing case track on case re-upload Fixed severity rank for SO term "regulatory region ablation" ### Changed Refactor according to CodeFactor - mostly reuse of duplicated code Phenomodels language adjustment Open variants in a new window (from variants page) Open overlapping and compound variants in a new window (from variant page) gnomAD link points to gnomAD v.3 (build GRCh38) for mitochondrial variants. Display only number of affected genes for dismissed SVs in general report Chromosome build check when populating the variants filter chromosome selection Display mitochondrial and rare diseases coverage report in cases with missing 'rare' track

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selected citations
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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).
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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!
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