ReviewAnnual review of genomics and human genetics2016
Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.
Review in Annual review of genomics and human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03548779 (North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2), which is not on this map. Cited by 33 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.
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Who cites it
33 citing papers in PubMed, 70 citations in OpenAlex.
- Trial
- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Orphanet journal of rare diseases · 2026Article
- Expanding access to genomic analysis and reporting in research studies: The GENYSIS research core.Journal of clinical and translational science · 2026Article
- In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.JCI insight · 2025Article
- Article
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.Public health genomics · 2025Article
- Article
- Article
- Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.Molecular genetics & genomic medicine · 2024Article
- Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Review
- Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.International journal of neonatal screening · 2023Article
- UGRP1-modulated MARCOImmunity & ageing : I & A · 2023Article
- Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.Endocrine connections · 2022Review
- Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.Molecular genetics & genomic medicine · 2022Article
- Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.Ecancermedicalscience · 2022Article
- Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.Frontiers in genetics · 2022Article
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Parents' perceptions of personal utility of exome sequencing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
As with all fields of medicine, the first step toward medical management of genetic disorders is obtaining an accurate diagnosis, which often requires testing at the molecular level. Unfortunately, given the large number of genetic conditions without a specific intervention, only rarely does a genetic diagnosis alter patient management-which raises the question, what is the added value of obtaining a molecular diagnosis? Given the fast-paced advancement of genomic technologies, this is an important question to address in the context of genome-scale testing. Here, we address the value of establishing a diagnosis using genome-scale testing and highlight the benefits and drawbacks of such testing. We also review and compare recent major studies implementing genome-scale sequencing methods to identify a molecular diagnosis in cohorts manifesting a broad range of Mendelian monogenic disorders. Finally, we discuss potential future applications of genomic sequencing, such as screening for rare conditions.
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.