Article
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
HGG advances - 9 Jan 2025
Danis Daniel, Bamshad Michael J, Bridges Yasemin, Caballero-Oteyza Andrés, Cacheiro Pilar, Carmody Leigh C, Chimirri Leonardo, Chong Jessica X, Coleman Ben, Dalgleish Raymond, Freeman Peter J, Graefe Adam S L, Groza Tudor, Hansen Peter, Jacobsen Julius O B, Klocperk Adam, Kusters Maaike, Ladewig Markus S, Marcello Allison J, Mattina Teresa, Mungall Christopher J, Munoz-Torres Monica C, Reese Justin T, Rehburg Filip, Reis Bárbara C S, Schuetz Catharina, Smedley Damian, Strauss Timmy, Sundaramurthi Jagadish Chandrabose, Thun Sylvia, Wissink Kyran, Wagstaff John F, Zocche David, Haendel Melissa A, Robinson Peter N
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
- Humans
- Phenotype