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The GA4GH Phenopacket schema defines a computable representation of clinical data
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Open AccessLarge-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism
Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and underst...
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Article
Open AccessA flexible computational pipeline for research analyses of unsolved clinical exome cases
Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment ...
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Article
Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data
Addressing Indigenous rights and interests in genetic resources has become increasingly challenging in an open science environment that promotes unrestricted access to genomic data. Although Indigenous experie...
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Article
A call for global action for rare diseases in Africa
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opp...
