KCCG/ClinSV

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65
Rank 473,702 (Top 10 %)
Language
Perl
License
Other
Created over 7 years ago
Updated 3 months ago

KCCG/ClinSV

KCCG

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Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data

rageseq

RAGE-seq scripts

seave

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. Seave is open source and deployable locally, or on a cloud computing provider, and works readily with gene panel, exome and whole genome data, scaling from single labs to multi-institution scale.

introme

seave-databases-annotations

SQL files required to set up the Seave database schema and scripts to import data from annotation sources into the Seave MySQL annotation databases.

vcfscope-measure

Measure the performance of a genomic analysis pipeline

homebrew-genomics

Genomics formulae for the Homebrew package manager, brew.sh

seave-documentation

Documentation for how to use and administrate a Seave installation.

phenomics-hippo

The Monarch HIPPO: Deriving insight from the medical literature by fuzzy semantic searches over diseases and phenotypes.

phenomics-devops

Phenomics code and Jenkins dev-ops setup