ReviewThe Journal of investigative dermatology2020
Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.
Review in The Journal of investigative dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 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.
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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.
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Who cites it
51 citing papers in PubMed, 99 citations in OpenAlex.
- Machine learning-based integration identifies a 10-gene predictive signature and its classification patterns in schizophrenia.European archives of psychiatry and clinical neuroscience · 2026Article
- The novel integrin-linked kinase inhibitor nilotinib suppresses cancer progression by promoting ubiquitylation of autoimmune regulator in oesophageal squamous cell carcinoma.Anti-cancer drugs · 2026Article
- Whole transcriptome sequencing and ceRNA regulatory network in diabetic peripheral neuropathy.Scientific reports · 2026Article
- Single-cell analysis reveals that NRG1/3-ERBB4 signaling affects metabolic reprogramming and immune escape in Wilms tumor.Biology direct · 2026Article
- Advances in functional transcriptome analysis of Mycobacterium tuberculosis: a review.Molecular genetics and genomics : MGG · 2026Review
- Article
- From wild shrub to cultivated host: a genetic roadmap for enhancing lac production inFrontiers in plant science · 2026Review
- RNA-Seq and XAI Can be Used as Tools to Aid Pathologists in the Process of Cancer Diagnosis.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Multi-Omics Advances in Major Depressive Disorder for Molecular Insights, Biomarker Discovery, and Therapeutic Development.Aging and disease · 2025Review
- CXCL14 drives age-related intervertebral disc degeneration via NF-κB pathway activation in a multiomic study.Scientific reports · 2025Article
- DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia.Journal of clinical immunology · 2025Article
- Deciphering the prognostic impact of aberrant DNA methylation on ANGPT1 gene in breast cancer.Scientific reports · 2025Article
- Comparative Transcriptomics Analysis of Foot-and-Mouth Disease Virus-Infected Cell Model Systems.Veterinary sciences · 2025Article
- The Role of EZH2 in Initiating Epigenetic Regulation of CRSwNP.Journal of inflammation research · 2025Article
- Epigallocatechin-3-gallate protects against osteoarthritis-induced chondrocytes dysfunction by regulating PLa2g2a.Frontiers in pharmacology · 2025Article
- Selective Effect of DNA N6-Methyladenosine Modification on Transcriptional Genetic Variations in East Asian Samples.International journal of molecular sciences · 2024Article
- New insights into allergic rhinitis treatment: MSC nanovesicles targeting dendritic cells.Journal of nanobiotechnology · 2024Article
- Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.Genome medicine · 2024Article
- Splice modulation strategy applied to deep intronic variants inProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Whole-Transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency.JID innovations : skin science from molecules to population health · 2024Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Mendelian disorders with cutaneous manifestations comprise a genotypically heterogeneous group of over 1,000 diseases, and in most of them mutant genes have been identified. Mutation detection approaches in these diseases have largely focused on DNA analysis by next-generation sequencing techniques, including gene-targeted sequencing panels as well as whole-exome and whole-genome sequencing. Genome-wide homozygosity mapping (HM), based on DNA polymorphism, has also assisted in the identification of candidate genes in families with consanguinity. However, specific pathogenic variants have not been disclosed in many individual patients when analyzed by next-generation sequencing, and in particular, DNA-based analysis failed to identify many of the mutations impacting on splicing or gene expression. Whole-transcriptome sequencing by RNA sequencing (RNA-Seq), with appropriate bioinformatics, provides a robust tool to identify additional mutations to facilitate genetic diagnosis in genodermatoses. RNA-Seq can be used for variant calling and HM similar to DNA-based approaches, but it also allows for the identification of mutations that result in aberrant transcriptome expression, as displayed by heatmap analysis, and altered splicing patterns of RNA, as visualized by Sashimi plots. Thus, clinical RNA-Seq extends molecular diagnostics of rare genodermatoses, and it could provide a reliable first-tier diagnostic approach to extend mutation databases in patients with heritable skin diseases.
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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.