GA4GH Phenopackets standard published by ISO
10 August • Bio-IT World Diagnostics World
"The International Organization for Standardization (ISO) has published Phenopackets, a standard initially developed by the Global Alliance for Genomics and Health (GA4GH)...'Having this ISO standard will encourage software developers, infrastructure developers, healthcare systems to consider Phenopackets as a method for sharing patient-level information — securely and in a deidentified way — that can be useful for everything from rare to infectious diseases, and addressing many kinds of public health questions,' said University of Colorado professor Melissa Haendel."
UK Biobank copy number-based GWAS discovers new associations with human traits
10 August • GenomeWeb
"The investigators noted that CNest can be used within standards established by the Global Alliance for Genomics and Health, and that the method should make it possible to unearth still other informative CNVs in large cohorts."
Summer read: a year of Swiss biological and biomedical data science
10 May • Swiss Institute of Bioinformatics
"Several SIB Members contributed to a special issue of the journal Cell Genomics, summing up the purpose and advances of the Global Alliance for Genomics and Health (GA4GH)."
