ReviewEuropean journal of human genetics : EJHG2013
RNA-Seq and human complex diseases: recent accomplishments and future perspectives.
Review in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers.
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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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Who cites it
116 citing papers in PubMed, 279 citations in OpenAlex.
- Hybrid Encoding and Adaptive Guidance for Enhanced Single-Cell Multi-omics Clustering.Interdisciplinary sciences, computational life sciences · 2026Article
- ProteoformDB: A Built-In Application to Generate Proteoform Database.Journal of proteome research · 2026Article
- Whole transcriptome analysis reveals T cell signaling activation in septic patients with thrombocytopenia.Scientific reports · 2025Article
- RNA Sequencing of Immune Response-Related Gene Expression Characteristics in Bovine Mammary Glands Infected withMicroorganisms · 2025Article
- Development of an End-to-End Total RNA Sequencing Quality Control Framework for Blood-Based Biomarker Discovery.The Journal of molecular diagnostics : JMD · 2025Article
- scHSC: enhancing single-cell RNA-seq clustering via hard sample contrastive learning.Briefings in bioinformatics · 2025Article
- Identification of Genes Linked to Meniscal Degeneration in Osteoarthritis: An In Silico Analysis.International journal of molecular sciences · 2025Article
- Novel NUP98:TNRC18 fusion transcript in acute myeloid leukemia: a case report and literature review.Blood science (Baltimore, Md.) · 2025Article
- scSAMAC: saliency-adjusted masking induced attention contrastive learning for single-cell clustering.Briefings in bioinformatics · 2025Article
- Investigation of Association Between Expression of DYX1C1, KIAA0319, and ROBO1 Genes and Specific Learning Disorder in Children and Adolescents.Journal of molecular neuroscience : MN · 2024Article
- Transcriptomics of Human Brain Tissue in Parkinson's Disease: a Comparison of Bulk and Single-cell RNA Sequencing.Molecular neurobiology · 2024Review
- Periodic heat waves-induced neuronal etiology in the elderly is mediated by gut-liver-brain axis: a transcriptome profiling approach.Scientific reports · 2024Article
- ntEmbd: Deep learning embedding for nucleotide sequences.bioRxiv : the preprint server for biology · 2024Article
- Article
- Acupuncture Extended the Thrombolysis Window by Suppressing Blood-Brain Barrier Disruption and Regulating Autophagy-Apoptosis Balance after Ischemic Stroke.Brain sciences · 2024Article
- Detecting differential transcript usage in complex diseases with SPIT.Cell reports methods · 2024Article
- Beyond Natriuretic Peptides: Unveiling the Power of Emerging Biomarkers in Heart Failure.Biomolecules · 2024Review
- CMAUP database update 2024: extended functional and association information of useful plants for biomedical research.Nucleic acids research · 2024Article
- Editorial: Omics applied to livestock genetics: volume II.Frontiers in genetics · 2024Article
- Integrating single-nucleus sequence profiling to reveal the transcriptional dynamics of Alzheimer's disease, Parkinson's disease, and multiple sclerosis.Journal of translational medicine · 2023Article
56 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
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The availability of the human genome sequence has allowed identification of disease-causing mutations in many Mendelian disorders, and detection of significant associations of nucleotide polymorphisms to complex diseases and traits. Despite these progresses, finding the causative variations for most of the common diseases remains a complex task. Several studies have shown gene expression analyses provide a quite unbiased way to investigate complex traits and common disorders' pathogenesis. Therefore, whole-transcriptome analysis is increasingly acquiring a key role in the knowledge of mechanisms responsible for complex diseases. Hybridization- and tag-based technologies have elucidated the involvement of multiple genes and pathways in pathological conditions, providing insights into the expression of thousand of coding and noncoding RNAs, such as microRNAs. However, the introduction of Next-Generation Sequencing, particularly of RNA-Seq, has overcome some drawbacks of previously used technologies. Identifying, in a single experiment, potentially novel genes/exons and splice isoforms, RNA editing, fusion transcripts and allele-specific expression are some of its advantages. RNA-Seq has been fruitfully applied to study cancer and host-pathogens interactions, and it is taking first steps for studying neurodegenerative diseases (ND) as well as neuropsychiatric diseases. In addition, it is emerging as a very powerful tool to study quantitative trait loci associated with gene expression in complex diseases. This paper provides an overview on gene expression profiling of complex diseases, with emphasis on RNA-Seq, its advantages over conventional technologies for studying cancer and ND, and for linking nucleotide variations to gene expression changes, also discussing its limitations.
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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.