A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F25%3A10481261" target="_blank" >RIV/00064203:_____/25:10481261 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/25:10481261
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=qQ3Ky-6BuK" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=qQ3Ky-6BuK</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.xhgg.2024.100371" target="_blank" >10.1016/j.xhgg.2024.100371</a>
Alternative languages
Result language
angličtina
Original language name
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Original language description
The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, numerical measurements, genetic information, diagnoses, and treatments. A phenopacket can be used as an input file for software that supports phenotype-driven genomic diagnostics and for algorithms that facilitate patient classification and stratification for identifying new diseases and treatments. There has been a great need for a collection of phenopackets to test software pipelines and algorithms. Here, we present phenopacket-store. Version 0.1.12 of phenopacket-store includes 4916 phenopackets representing 277 Mendelian and chromosomal diseases associated with 236 genes, and 2872 unique pathogenic alleles curated from 605 different publications. This represents the first large-scale collection of case-level, standardized phenotypic information derived from case reports in the literature with detailed descriptions of the clinical data and will be useful for many purposes, including the development and testing of software for prioritizing genes and diseases in diagnostic genomics, machine learning analysis of clinical phenotype data, patient stratification, and genotype-phenotype correlations. This corpus also provides best-practice examples for curating literature-derived data using the GA4GH Phenopacket Schema.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30102 - Immunology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human Genetics and Genomics Advances
ISSN
2666-2477
e-ISSN
2666-2477
Volume of the periodical
6
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
100371
UT code for WoS article
001350141900001
EID of the result in the Scopus database
2-s2.0-85207758619