Colin Diesh
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View article: opentargets/ot-ui-apps: v0.14.2
opentargets/ot-ui-apps: v0.14.2 Open
What's Changed [Platform]: fix biome version and edifor config by @carcruz in https://github.com/opentargets/ot-ui-apps/pull/810 [Platform]: Avoid failed profile request on credible set page. by @gjmcn in https://github.com/opentargets/ot…
View article: obophenotype/human-phenotype-ontology: 2025-11-24 Release
obophenotype/human-phenotype-ontology: 2025-11-24 Release Open
Updated Content Classes added: 140 | Term | ----| | Local paresthesia at bite site (HP:0020014) | | Decreased fetal head circumference (HP:0020306) | | Abnormal CSF 5-hydroxyindoleacetic acid concentration (HP:0020019) | | Irregularity of…
View article: opentargets/ot-ui-apps: v0.14.2
opentargets/ot-ui-apps: v0.14.2 Open
Open Targets Platform web applications
View article: opentargets/ot-ui-apps: v0.14.3
opentargets/ot-ui-apps: v0.14.3 Open
Open Targets Platform web applications
View article: opentargets/ot-ui-apps: v0.14.3
opentargets/ot-ui-apps: v0.14.3 Open
What's Changed [Platform]: fix biome version and edifor config by @carcruz in https://github.com/opentargets/ot-ui-apps/pull/810 [Platform]: Avoid failed profile request on credible set page. by @gjmcn in https://github.com/opentargets/ot…
View article: bcgsc/straglr: v1.5.6
bcgsc/straglr: v1.5.6 Open
Added r'' around regex pattern to comply with Python3.12
View article: adamewing/methylartist: 1.5.3
adamewing/methylartist: 1.5.3 Open
cleanup options for wgmeth locus, region: add --shuffle locus: add --samplebox for sample markers next to alignment plot locus: add --notext to remove all text locus: enforce --phased with --phasediff locus, region: add --smoothlinewidth …
View article: opentargets/ot-ui-apps: v0.14.1
opentargets/ot-ui-apps: v0.14.1 Open
What's Changed [Platform]: fix biome version and edifor config by @carcruz in https://github.com/opentargets/ot-ui-apps/pull/810 [Platform]: Avoid failed profile request on credible set page. by @gjmcn in https://github.com/opentargets/ot…
View article: opentargets/ot-ui-apps: v0.14.1
opentargets/ot-ui-apps: v0.14.1 Open
Open Targets Platform web applications
View article: Setting Up the JBrowse 2 Genome Browser
Setting Up the JBrowse 2 Genome Browser Open
JBrowse 2 is a modular genome browser that can visualize many common genomic file formats. While JBrowse 2 supports a variety of different usages, it is particularly suited for deployment on websites, such as model organism databases or ot…
View article: JBrowse 2: a modular genome browser with views of synteny and structural variation
JBrowse 2: a modular genome browser with views of synteny and structural variation Open
View article: JBrowse Jupyter: a Python interface to JBrowse 2
JBrowse Jupyter: a Python interface to JBrowse 2 Open
Motivation JBrowse Jupyter is a package that aims to close the gap between Python programming and genomic visualization. Web-based genome browsers are routinely used for publishing and inspecting genome annotations. Historically they have …
View article: CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing
CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing Open
Background Detecting copy number variations (CNVs) and copy number alterations (CNAs) based on whole-genome sequencing data is important for personalized genomics and treatment. CNVnator is one of the most popular tools for CNV/CNA discove…
View article: JBrowseR: an R interface to the JBrowse 2 genome browser
JBrowseR: an R interface to the JBrowse 2 genome browser Open
Motivation Genome browsers are an essential tool in genome analysis. Modern genome browsers enable complex and interactive visualization of a wide variety of genomic data modalities. While such browsers are very powerful, they can be chall…
View article: Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine
Methods developed during the first National Center for Biotechnology Information Structural Variation Codeathon at Baylor College of Medicine Open
In October 2019, 46 scientists from around the world participated in the first National Center for Biotechnology Information (NCBI) Structural Variation (SV) Codeathon at Baylor College of Medicine. The charge of this first annual working …
View article: Cram-JS: reference-based decompression in node and the browser
Cram-JS: reference-based decompression in node and the browser Open
Motivation The CRAM format addresses rising DNA storage costs for short-read sequencing by aligning reads to a reference genome and encoding the resulting alignment with Huffman, subexponential, Elias gamma, rANS, gzip and other codes. The…
View article: Apollo: Democratizing genome annotation
Apollo: Democratizing genome annotation Open
Genome annotation is the process of identifying the location and function of a genome's encoded features. Improving the biological accuracy of annotation is a complex and iterative process requiring researchers to review and incorporate mu…
View article: WikiGenomes: an open web application for community consumption and curation of gene annotation data in Wikidata
WikiGenomes: an open web application for community consumption and curation of gene annotation data in Wikidata Open
www.wikigenomes.org.