Browsing Centre for Clinical Pharmacology by Author "Ladewig, MS"

Now showing items 1-2 of 2

    • A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. 

      Danis, D; Bamshad, MJ; Bridges, Y; Cacheiro, P; Carmody, LC; Chong, JX; Coleman, B; Dalgleish, R; Freeman, PJ; Graefe, ASL (2024-05-29)
      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, ...

    • Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. 

      Dhombres, F; Morgan, P; Chaudhari, BP; Filges, I; Sparks, TN; Lapunzina, P; Roscioli, T; Agarwal, U; Aggarwal, S; Beneteau, C (Wiley, 2022-07-24)
      Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ...