clinical-genomics

There are 0 repository under clinical-genomics topic.

• Genotek / ClassifyCNV

  ClassifyCNV: a tool for clinical annotation of copy-number variants

  annotationsbioinformaticsclinical-genomicscnvcopy-number-variationdeletionduplicationpathogenicity
  Language:Python 61

• neurogenomics / HPOExplorer

  Functions for working with the Human Phenotype Ontology data

  bioinformaticsclinical-genomicsgeneticshuman-phenotype-ontologyontologiesphenomer-packagerare-disease
  Language:R 7

• GenomicsAotearoa / clinical_genomics

  Workflows relating to the GA clinical genomics project

  clinical-genomics
  2

• GenomicsAotearoa / bioinformatics-containers

  Docker containers used by cancer-seq-pipeline.

  cancer-genomicsclinical-genomicshealth-genomicshealthpipelines
  Language:Dockerfile 1

• GenomicsAotearoa / dbNSFP_build

  Docker container to download dbNSFP 'database' and wrangle it into a format suitable for pipeline annotation process

  clinical-genomicscancer-genomicshuman-genomicsannotationhealth
  Language:Shell 1

• grabadam-cal / jdm-DECIPHER-2024

  Analysis code used for Rabadam G, Neely J, et al. JCI Insight, 2024.

  autoimmunityclinical-genomicscomputational-biology
  Language:R 0

• GenomicsAotearoa / diagnostics_exome_reporting

  Pipeline to filter whole exome vcf files and generate a report document for clinical diagnostics.

  clinical-genomicscancer-genomicshealthhuman-genomics
  Language:Shell

• GenomicsAotearoa / human_genomics_pipeline

  A Snakemake workflow to process single samples or cohorts of paired-end sequencing data (WGS or WES) using trim galore/bwa/GATK4/parabricks.

  clinical-genomics
  Language:Python

• GenomicsAotearoa / vcf_annotation_pipeline

  A Snakemake workflow to filter, annotate and prepare variant call format (VCF) data for scout using GATK4, SnpSift, VEP and genmod. Designed to be used after human_genomics_pipeline.

  clinical-genomics
  Language:Python

• GenomicsAotearoa / WES_ShinyDiscover

  A Shiny interface to filter and identify variants of interest from whole exome data

  clinical-genomicscancer-genomicshealthdashboard
  Language:CSS

• seandavi / foundation-medicine-xml-parser

  A simple xml-to-csv parser for Foundation Medicine XML reports

  bioinformaticsclinicalclinical-genomicsfoundation-medicinegeneticsgenomicsprecision-medicinexml
  Language:Python