phenotypes topic

List phenotypes repositories

Exomiser

184
Stars
54
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Watchers

A Tool to Annotate and Prioritize Exome Variants

ClarityNLP

105
Stars
42
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An NLP framework for clinical phenotyping. Docker | Python | Solr | OMOP. http://claritynlp.readthedocs.io/en/latest/

phenopacket-schema

69
Stars
28
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Repository for the GA4GH phenopacket schema

biolink-api

63
Stars
25
Forks
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API for linked biological knowledge

pato

58
Stars
18
Forks
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PATO - the Phenotype And Trait Ontology

kover

50
Stars
14
Forks
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Learn interpretable computational phenotyping models from k-merized genomic data

HPO-translations

19
Stars
12
Forks
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Internationalisation of the HPO content

txt2hpo

23
Stars
4
Forks
Watchers

Python library for extracting HPO encoded phenotypes from text

phenomenet-vp

36
Stars
13
Forks
Watchers

A phenotype-based tool for variant prioritization in WES and WGS data