ReviewNPJ genomic medicine2018
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Review in NPJ genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 15 papers.
What it found
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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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
15 citing papers in PubMed.
- Preimplantation genetic testing-M for pathogenic variant in CTC1 gene causing cerebroretinal microangiopathy.Journal of assisted reproduction and genetics · 2026Article
- Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.Scientific reports · 2025Article
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- Long read sequencing on its way to the routine diagnostics of genetic diseases.Frontiers in genetics · 2024Review
- Simulation of undiagnosed patients with novel genetic conditions.Nature communications · 2023Article
- A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.Genetics · 2023Article
- De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.Human genetics · 2023Article
- Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.Human molecular genetics · 2023Article
- A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Large scale in silico characterization of repeat expansion variation in human genomes.Scientific data · 2020Article
- novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data.Bioinformatics (Oxford, England) · 2019Article
- Epigenetic Inheritance Underlying Pulmonary Arterial Hypertension.Arteriosclerosis, thrombosis, and vascular biology · 2019Review
- HomozygousNeurology. Genetics · 2019Article
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic acids research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
48 authors.
Funding
Abstract
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan. The interdisciplinary gene discovery team includes clinical, computational, and experimental biomedical specialists who interact to identify the genetic etiology of the disease, and when so warranted, to devise improved or novel treatments for affected patients. This program effectively integrates the clinical and research missions of an academic medical center and affords both diagnostic and therapeutic options for patients suffering from genetic disease. It may therefore be germane to other academic medical institutions engaged in implementing genomic medicine programs.
Identifiers
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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.