ArticleGenomics, proteomics & bioinformatics2012
The transcript-centric mutations in human genomes.
Article in Genomics, proteomics & bioinformatics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants.G3 (Bethesda, Md.) · 2026Article
- Lineage-associated Human Divergently-paired Genes Exhibit Structural and Regulatory Characteristics.Genomics, proteomics & bioinformatics · 2025Article
- Comprehensive Analysis of Ubiquitously Expressed Genes in Humans from A Data-driven Perspective.Genomics, proteomics & bioinformatics · 2023Article
- Compositional Variability and Mutation Spectra of Monophyletic SARS-CoV-2 Clades.Genomics, proteomics & bioinformatics · 2020Article
- Analysis of bHLH genes from foxtail millet (Setaria italica) and their potential relevance to drought stress.PloS one · 2018Article
- A benchmark of gene expression tissue-specificity metrics.Briefings in bioinformatics · 2017Article
- MTD: a mammalian transcriptomic database to explore gene expression and regulation.Briefings in bioinformatics · 2017Article
- Genomic incompatibilities in the diploid and tetraploid offspring of the goldfish × common carp cross.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Precision Medicine: What Do We Expect in the Scope of Basic Biomedical Sciences?Genomics, proteomics & bioinformatics · 2016Article
- Translational selection in human: more pronounced in housekeeping genes.Biology direct · 2014Article
- Ribogenomics: the science and knowledge of RNA.Genomics, proteomics & bioinformatics · 2014Article
- Evidence for evolutionary and nonevolutionary forces shaping the distribution of human genetic variants near transcription start sites.PloS one · 2014Article
- Does the genetic code have a eukaryotic origin?Genomics, proteomics & bioinformatics · 2013Article
- The pendulum model for genome compositional dynamics: from the four nucleotides to the twenty amino acids.Genomics, proteomics & bioinformatics · 2012Article
- Life on two tracks.Genomics, proteomics & bioinformatics · 2012Article
- Challenges to the common dogma.Genomics, proteomics & bioinformatics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since the human genome is mostly transcribed, genetic variations must exhibit sequence signatures reflecting the relationship between transcription processes and chromosomal structures as we have observed in unicellular organisms. In this study, a set of 646 ubiquitous expression-invariable genes (EIGs) which are present in germline cells were defined and examined based on RNA-sequencing data from multiple high-throughput transcriptomic data. We demonstrated a relationship between gene expression level and transcript-centric mutations in the human genome based on single nucleotide polymorphism (SNP) data. A significant positive correlation was shown between gene expression and mutation, where highly-expressed genes accumulate more mutations than lowly-expressed genes. Furthermore, we found four major types of transcript-centric mutations: C→T, A→G, C→G, and G→T in human genomes and identified a negative gradient of the sequence variations aligning from the 5' end to the 3' end of the transcription units (TUs). The periodical occurrence of these genetic variations across TUs is associated with nucleosome phasing. We propose that transcript-centric mutations are one of the major driving forces for gene and genome evolution along with creation of new genes, gene/genome duplication, and horizontal gene transfer.
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.