rare disease phenotype

Aliases

rare disease

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Mentioned in (15)

Papers in which this entity is mentioned.

• Artificial Intelligence agents for biological research: a survey. (2026)
• Biomni: A General-Purpose Biomedical AI Agent. (2025)
• Single-cell RNA-seq data augmentation using generative Fourier transformer. (2025)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• The Human Phenotype Ontology in 2024: phenotypes around the world. (2024)
• Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
• Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
• Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group. (2018)
• Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
• The impact of structural variation on human gene expression. (2017)
• A global reference for human genetic variation. (2015)
• An integrated encyclopedia of DNA elements in the human genome. (2012)

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