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Exomiser exomiser

54

197

agpl-3.0

24

A Tool to Annotate and Prioritize Exome Variants

exome analysis genomics variants phenotypes monarchinitiative

Created 2014-11-04

3,289 commits to master branch, last one 8 days ago

ClarityNLP ClarityNLP

42

106

mpl-2.0

17

An NLP framework for clinical phenotyping. Docker | Python | Solr | OMOP. http://claritynlp.readthedocs.io/en/latest/

nlp solr luigi nlpql docker mongodb phenotype phenotypes clinical-research clinical-phenotyping clinical-quality-language natural-language-processing

This repository has been archived (exclude archived)

Created 2018-03-28

2,072 commits to main branch, last one 6 months ago

phenopacket-schema phenopackets

28

75

bsd-3-clause

12

Repository for the GA4GH phenopacket schema

ga4gh schema protobuf phenotypes phenopackets ehr-phenotyping monarchinitiative

Created 2018-03-19

845 commits to master branch, last one 2 months ago

biolink-api monarch-initiative

25

63

bsd-3-clause

16

API for linked biological knowledge

api gene python swagger ontologies phenotypes bioinformatics model-organisms

Created 2016-12-17

666 commits to master branch, last one 2 years ago

pato pato-ontology

18

58

bsd-3-clause

18

PATO - the Phenotype And Trait Ontology

obo units ontology qualities standards obofoundry phenotypes quantities semantic-web trait-ontology

Created 2014-06-09

846 commits to master branch, last one 24 days ago

phenopy GeneDx

11

57

other

9

Phenotype comparison tools using semantic similarity.

hpo phenomics phenotypes semantic-similarity

Created 2019-09-09

475 commits to master branch, last one about a year ago

kover aldro61

14

50

gpl-3.0

7

Learn interpretable computational phenotyping models from k-merized genomic data

k-mer genomics phenotypes machine-learning biomarker-discovery

Created 2015-06-01

314 commits to kover2 branch, last one 2 years ago