ReviewGenomics & informatics2024
Rare disease genomics and precision medicine.
Review in Genomics & informatics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed.
- Personalized drug discovery from rare diseases to cancer.npj drug discovery · 2026Review
- CRISPR-Cas9 and precision editing technologies linking functional genomics to clinical translation in genetic diseases.Clinical and translational medicine · 2026Review
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
- Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.Diagnostics (Basel, Switzerland) · 2025Review
- Advancing genome-based precision medicine: a review on machine learning applications for rare genetic disorders.Briefings in bioinformatics · 2025Review
- Editorial for the special collection: frontiers in rare disease genetics.Genomics & informatics · 2025Article
- Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics.Genomics & informatics · 2025Review
- Coalition of explainable artificial intelligence and quantum computing in precision medicine.Computational and structural biotechnology journal · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases, though individually uncommon, collectively affect millions worldwide. Genomic technologies and big data analytics have revolutionized diagnosing and understanding these conditions. This review explores the role of genomics in rare disease research, the impact of large consortium initiatives, advancements in extensive data analysis, the integration of artificial intelligence (AI) and machine learning (ML), and the therapeutic implications in precision medicine. We also discuss the challenges of data sharing and privacy concerns, emphasizing the need for collaborative efforts and secure data practices to advance rare disease research.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.