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Dylan (peupeubangbang)

peupeubangbang

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Company:@WARDARD @RareCareWA

Location:Perth

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Dylan's starred repositories

redcap_simple_ontology_provider

REDCap external module provides simple implementation of the ontology provider mechanism.

Language:PHPLicense:NOASSERTIONStargazers:4Issues:0Issues:0

redcap_fhir_ontology_provider

REDCap external module provides support for referencing an external Fhir based ontology server to lookup values.

Language:PHPLicense:NOASSERTIONStargazers:8Issues:0Issues:0

redcap_advanced_fhir_ontology

REDCap External Module to give autocomplete using a FHIR terminology server with advanced options.

Language:PHPLicense:NOASSERTIONStargazers:3Issues:0Issues:0

redcap_pedigree_editor

Redcap External Module to allow the entry of a pedigree diagram, storing the result as a FHIR resource

Language:PHPLicense:NOASSERTIONStargazers:7Issues:0Issues:0

redmatch

A rules-based transformation engine that allows exporting data in REDCap as FHIR resources.

Language:JavaLicense:NOASSERTIONStargazers:10Issues:0Issues:0

LIRICAL

LIkelihood Ratio Interpretation of Clinical AbnormaLities

Language:JavaLicense:NOASSERTIONStargazers:22Issues:0Issues:0

fhir-owl

Transforms OWL ontologies into FHIR code systems.

Language:JavaLicense:NOASSERTIONStargazers:17Issues:0Issues:0

phenomics-exchange-ig

Phenomics Exchange IG

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phenopacket-schema

Repository for the GA4GH phenopacket schema

Language:JavaLicense:BSD-3-ClauseStargazers:72Issues:0Issues:0

PowerToys

Windows system utilities to maximize productivity

Language:C#License:MITStargazers:106846Issues:0Issues:0

PhenopacketGenerator

Generate a phenopacket for use with LIRICAL or Exomiser

Language:JavaLicense:BSD-3-ClauseStargazers:6Issues:0Issues:0

varppRule

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sssom

Simple Standard for Sharing Ontology Mappings

Language:PythonLicense:BSD-3-ClauseStargazers:139Issues:0Issues:0

drawio-desktop

Official electron build of draw.io

Language:JavaScriptLicense:Apache-2.0Stargazers:47859Issues:0Issues:0

HpoCaseAnnotator

Next-generation Biocuration App for annotating cases and PhenoPackets

Language:JavaLicense:BSD-3-ClauseStargazers:8Issues:0Issues:0

monochrom

Standardized identifiers and OWL classes for chromosomes and chromosomal parts across species

Language:PythonStargazers:12Issues:0Issues:0

tawny-karyotype

Modelling karyotypes in OWL

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dead_simple_owl_design_patterns

A simple system for specifying OWL class design patterns for OBO-ish ontologies.

Language:PythonLicense:GPL-3.0Stargazers:40Issues:0Issues:0

seqr

web-based analysis tool for rare disease genomics

Language:PythonLicense:AGPL-3.0Stargazers:171Issues:0Issues:0

fenominal

Phenomenal text mining for disease and phenotype concepts

Language:JavaLicense:GPL-3.0Stargazers:9Issues:0Issues:0

PhenoteFX

PhenoteFX

Language:JavaLicense:BSD-3-ClauseStargazers:5Issues:0Issues:0

sng_reports

hosting the html reports for the SeqNextGen project

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Phenoparser

Small program to query OMIM and store output in a local sqlite database.

Language:CLicense:BSD-3-ClauseStargazers:3Issues:0Issues:0

poc-hpo-on-fhir

Proof of Concept: FHIR observations to HPO

Language:JavaLicense:MITStargazers:7Issues:0Issues:0

obo-relations

RO is an ontology of relations for use with biological ontologies

Language:Jupyter NotebookLicense:NOASSERTIONStargazers:90Issues:0Issues:0

ontology-development-kit

Bootstrap an OBO Library ontology

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MAxO

Medical action ontology

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exomiser-demo

Demo exomiser application

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uberon

An ontology of gross anatomy covering metazoa. Works in concert with https://github.com/obophenotype/cell-ontology

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Exomiser

A Tool to Annotate and Prioritize Exome Variants

Language:JavaLicense:AGPL-3.0Stargazers:190Issues:0Issues:0