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Kinghorn Centre for Clinical Genomics

  • RAGE-seq scripts

    Perl Updated Mar 13, 2019
  • A tool for fetching nanopore fast5 files after filtering via demultiplexing, alignment, or other, to improve downstream processing efficiency

    Python 2 MIT Updated Feb 13, 2019
  • Phenomics code and Jenkins dev-ops setup

    Python GPL-3.0 Updated Oct 5, 2018
  • A java dcokerized runnable scheduled to perform subscribed searches and send notifications

    Java GPL-3.0 Updated Oct 5, 2018
  • Java GPL-3.0 Updated Oct 5, 2018
  • Amazon Lambda function to fetch, clean and dispatch latest pubmed articles for annotation.

    Java GPL-3.0 Updated Oct 5, 2018
  • Affinity is a service equipped with Lucene and Luwak for active ontology search hits

    Java GPL-3.0 Updated Oct 5, 2018
  • The Monarch HIPPO: Deriving insight from the medical literature by fuzzy semantic searches over diseases and phenotypes.

    JavaScript GPL-3.0 Updated Oct 5, 2018
  • Phenomics annotation and search suite

    Java GPL-3.0 Updated Oct 5, 2018
  • dx Asset bundle, supporting VCFscope

    Makefile 2 GPL-3.0 Updated Sep 20, 2018
  • Shell 1 Updated Aug 10, 2018
  • Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. …

    HTML 10 1 Updated Aug 9, 2018
  • Measure the performance of a genomic analysis pipeline

    Perl 2 GPL-3.0 Updated Aug 7, 2018
  • This is an early version of POREquality, an R Markdown document designed to be ran as part of a Nanopore local basecalling pipeline.

    6 MIT Updated Jul 16, 2018
  • Documentation for how to use and administrate a Seave installation.

    TeX 1 Updated May 7, 2018
  • SQL files required to set up the Seave database schema and scripts to import data from annotation sources into the Seave MySQL annotation databases.

    Perl 1 1 Updated Mar 23, 2018
  • KCCG's cloud-based, genome analysis pipeline

    1 Updated Dec 1, 2017
  • Mitochondrial variant calling from WGS data

    Updated Dec 1, 2017
  • Reliably detecting clinically relevant structural variation from whole genome sequencing

    1 MIT Updated Oct 20, 2017
  • IGV server for DNAnexus data

    Python Updated Sep 26, 2017
  • VCFscope report generation app.

    R 1 GPL-3.0 Updated Feb 28, 2017
  • Annotation database generated from UCSC, using CCDS (Consensus CDS IDs)

    R Updated Jan 31, 2017
  • Genomics formulae for the Homebrew package manager,

    Ruby 1 Updated Jan 19, 2017
  • CloudBioLinux: configure virtual (or real) machines with tools for biological analyses

    Python 143 MIT Updated Jul 23, 2014

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