ArticleNPJ genomic medicine2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Pooled it
- AI-based multimodal integration of genomics and electronic health records.Nature reviews. Genetics · 2026Review
- Gene variants associated with pediatric-onset erythromelalgia: Mendelian and rare-variant association analyses.Pain reports · 2026Article
- Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features.Inflammatory bowel diseases · 2026Article
- RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.medRxiv : the preprint server for health sciences · 2026Article
- Increased percentages of circulating T follicular helper cells associate with disease subtype and activity in pediatric immune cytopenias.Haematologica · 2026Article
- Artificial Intelligence in Clinical Genetics: Current Applications and Challenges.Indian journal of pediatrics · 2026Review
- Integrating omics and artificial intelligence in pediatric environmental health: tools, challenges, and cohort-based insights.Pediatric research · 2026Review
- The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East.JPGN reports · 2026Article
- Heterozygous variants in DOCK2 leading to susceptibility to viral illnesses.The Journal of allergy and clinical immunology · 2026Article
- Article
- Systematic bibliometric and visualized analysis of global research trends, impact, emerging areas, and hotspots of artificial intelligence in personalized medicine.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
- Use of Computational Phenotypes for Predicting Genetic Subgroups of Cerebral Palsy.Pediatric neurology · 2025Article
- Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- An integrated approach for rare disease detection and classification in Spanish pediatric medical reports.Scientific reports · 2025Article
- A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Article
- Genomics and multiomics in the age of precision medicine.Pediatric research · 2025Review
- Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.NPJ genomic medicine · 2025Article
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 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
21 authors at 2 institutions in 1 country.
Funding
Abstract
While genomic data is frequently collected under distinct research protocols and disparate clinical and research regimes, there is a benefit in streamlining sequencing strategies to create harmonized databases, particularly in the area of pediatric rare disease. Research hospitals seeking to implement unified genomics workflows for research and clinical practice face numerous challenges, as they need to address the unique requirements and goals of the distinct environments and many stakeholders, including clinicians, researchers and sequencing providers. Here, we present outcomes of the first phase of the Children's Rare Disease Cohorts initiative (CRDC) that was completed at Boston Children's Hospital (BCH). We have developed a broadly sharable database of 2441 exomes from 15 pediatric rare disease cohorts, with major contributions from early onset epilepsy and early onset inflammatory bowel disease. All sequencing data is integrated and combined with phenotypic and research data in a genomics learning system (GLS). Phenotypes were both manually annotated and pulled automatically from patient medical records. Deployment of a genomically-ordered relational database allowed us to provide a modular and robust platform for centralized storage and analysis of research and clinical data, currently totaling 8516 exomes and 112 genomes. The GLS integrates analytical systems, including machine learning algorithms for automated variant classification and prioritization, as well as phenotype extraction via natural language processing (NLP) of clinical notes. This GLS is extensible to additional analytic systems and growing research and clinical collections of genomic and other types of data.
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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.