ReviewThe Journal of clinical investigation2022
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.
Review in The Journal of clinical investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.PloS one · 2025Pooled it
- Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.Annals of laboratory medicine · 2026Article
- DNA Replication Errors Drive Genome-Wide Small Inverted Triplication Dynamics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.Genes and immunity · 2026Article
- Ferroptosis-related biomarkers for diagnosis and mechanistic insights into Alzheimer's disease.Frontiers in aging neuroscience · 2026Article
- Single vs dual genetic disease in children with congenital anomalies and solid tumors.Genetics in medicine open · 2026Article
- Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026Review
- Doing more with less: Genomic quasi-G-primes differentiate septic from healthy patients.PloS one · 2026Article
- Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.Orphanet journal of rare diseases · 2025Article
- The accuracy and real resolution of karyotyping technique in detecting chromosomal aberrations identified by molecular genetic methods.Molecular genetics and genomics : MGG · 2025Article
- Sustainability in translational genomics research with undiagnosed patients: What is it, why do we need it, and how do we do it?Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.Diagnostics (Basel, Switzerland) · 2025Review
- Application of multigene panel testing for bleeding, thrombotic, and platelet disorders in patients and the general population in China.Molecular biomedicine · 2025Article
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Advancements in pathology: Digital transformation, precision medicine, and beyond.Journal of pathology informatics · 2025Review
- A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.Orphanet journal of rare diseases · 2024Review
- Coexistence of adeno-associated virus 2 with adenovirus 18 or herpesvirus may be associated with severe lingual papillomatosis in an immunocompromised individual.Virologica Sinica · 2024Article
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
- Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.NPJ genomic medicine · 2024Article
- Article
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
Abstract
Rare genetic disorders, when considered together, are relatively common. Despite advancements in genetics and genomics technologies as well as increased understanding of genomic function and dysfunction, many genetic diseases continue to be difficult to diagnose. The goal of this Review is to increase the familiarity of genetic testing strategies for non-genetics providers. As genetic testing is increasingly used in primary care, many subspecialty clinics, and various inpatient settings, it is important that non-genetics providers have a fundamental understanding of the strengths and weaknesses of various genetic testing strategies as well as develop an ability to interpret genetic testing results. We provide background on commonly used genetic testing approaches, give examples of phenotypes in which the various genetic testing approaches are used, describe types of genetic and genomic variations, cover challenges in variant identification, provide examples in which next-generation sequencing (NGS) failed to uncover the variant responsible for a disease, and discuss opportunities for continued improvement in the application of NGS clinically. As genetic testing becomes increasingly a part of all areas of medicine, familiarity with genetic testing approaches and result interpretation is vital to decrease the burden of undiagnosed disease.
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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.