ArticleNature reviews. Genetics2013
Disease-targeted sequencing: a cornerstone in the clinic.
Article in Nature reviews. Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01736566 (The MedSeq Project Pilot Study), which is not on this map. Cited by 195 papers, 2 of them syntheses 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.
The MedSeq Project Pilot Study: Integrating Whole Genome Sequencing Into the Practice of Clinical Medicine
Who cites it
195 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection.European journal of human genetics : EJHG · 2026Article
- The evolution of hereditary cancer genetic counselling: mainstreaming, service redesign and patient experience in Lynch syndrome.Familial cancer · 2026Review
- Review
- Ultra-Sensitive Mutation Detection Technology in Myeloid Neoplasms: New Tools for Patient Monitoring.Journal of clinical medicine · 2026Review
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities.Human genomics · 2025Review
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- SpatialSNV: A novel method for identifying and analyzing spatially resolved SNVs in tumor microenvironments.GigaScience · 2025Article
- SJPedPanel: A Pan-Cancer Gene Panel for Childhood Malignancies to Enhance Cancer Monitoring and Early Detection.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Mutation landscape in Chinese nodal diffuse large B-cell lymphoma by targeted next generation sequencing and their relationship with clinicopathological characteristics.BMC medical genomics · 2024Article
- Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS.International journal of neonatal screening · 2023Article
- 2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing.American journal of human genetics · 2023Article
- Application of next-generation sequencing to identify different pathogens.Frontiers in microbiology · 2023Review
- Artificial intelligence and database for NGS-based diagnosis in rare disease.Frontiers in genetics · 2023Review
- The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients.Diagnostics (Basel, Switzerland) · 2022Review
- A NovelGenes · 2022Article
- Leveraging an Informatics Approach to Identify an Unmet Clinical Need forJCO clinical cancer informatics · 2022Article
- Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.Journal of orthopaedic surgery and research · 2022Article
135 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
With the declining cost of sequencing and the ongoing discovery of disease genes, it is now possible to examine hundreds of genes in a single disease-targeted test. Although exome- and genome-sequencing approaches are beginning to compete, disease-targeted testing retains certain advantages and still holds a firm place in the diagnostic evaluation. Here I examine the current state of clinical disease-targeted sequencing and evaluate the benefits and challenges of incorporating sequencing tests into patient care.
Indexed as
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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.