Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (554 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The genetic complement of an organism, including all of its genes, as represented in its DNA, or in some cases, its RNA.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Genomes; Pangenome; Pan-genome; Accessory Genome; Core Genome.
Where it fits in the MeSH classification
- Broader topics
- Genetic Structures
- Narrower topics
- Epigenome; Exome; Genome Components; Genome Size; Genome, Helminth; Genome, Human; Genome, Insect; Genome, Microbial; Genome, Mitochondrial; Genome, Plant; Genome, Plastid; Genome, Protozoan; Genomic Library; Metagenome
- See also
- Genes; Genomics
Related concepts
Research landscape
PubMed indexes 1,157,427 records tagged with the MeSH heading “Genome” (counts retrieved 2026-10-29). 168,623 of them (14.6%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 359,888 records.
Reviews account for 100,123 records (8.7%) and meta-analyses for 5,656. Randomized controlled trials number 1,979 (0.2%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 309,677 |
| 2000-2009 | 319,239 |
| 2010-2019 | 359,888 |
| 2020 onward | 168,623 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 100,123 | 8.7% |
| Meta-analyses | 5,656 | 0.5% |
| Randomized controlled trials | 1,979 | 0.2% |
Method: PubMed query "Genome"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Human antibody heavy chain variable region exon interacts with the 3' regulatory region to form a stable somatic hypermutation center | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42804635 · DOI · PMC13643152 |
| CpG hypermethylation and WNT/AP-1 cooperativity define the epigenetic landscape and a clinical subgroup of high-risk pediatric adrenocortical carcinoma | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42736301 · DOI · PMC13575229 |
| Developmental bias of body size and caste by the fire ant social supergene | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42838556 · DOI · PMC13641908 |
Human antibody heavy chain variable region exon interacts with the 3' regulatory region to form a stable somatic hypermutation center [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Activation-induced cytidine deaminase (AID) initiates somatic hypermutation (SHM) of immunoglobulin heavy chain (HC) variable region exons in germinal center (GC) B cells, allowing selection of affinity-matured B cell receptors.
- Closing excerpt
- We discuss implications for SHM-C structure and function, its long-term functional stability in the absence of the loop extrusion process proposed to assemble it, and for 3'RR SHM functions beyond transcriptional activation.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (252 words)
Activation-induced cytidine deaminase (AID) initiates somatic hypermutation (SHM) of immunoglobulin heavy chain (HC) variable region exons in germinal center (GC) B cells, allowing selection of affinity-matured B cell receptors. The V(D)J exon location is "privileged" for SHM targeting of diverse sequences within it. In analogy to the related HC class switch recombination center, we proposed that cohesin-mediated loop extrusion juxtaposes widely separated enhancers, including 3' Igh regulatory region ("3'RR"), with the V(D)J exon in GC B cells to establish a SHM-center (SHM-C) "privileged" for AID access. To test this hypothesis, we employed a human RAMOS GC B lymphoma cell SHM model with inducible AID expression in which we targeted an unmutated mouse HC V(D)J exon in place of its human counterpart. Activation of AID expression in this cycling RAMOS line for 10 d led to robust SHM accumulation in the mouse V(D)J exon with a pattern similar to that in mouse GC B cells. In this model, the mouse V(D)J exon was indeed juxtaposed to the two human 3'RRs and other elements consistent with SHM-C formation. While deletion of individual 3'RRs had little effect, deletion of both greatly reduced SHM, but left V(D)J exon transcription unabated. Moreover, the SHM-C and SHM accumulation remained intact over a 10-d period in viably G1-arrested and viably G1-arrested RAD21 (cohesin)-depleted versions of the model. We discuss implications for SHM-C structure and function, its long-term functional stability in the absence of the loop extrusion process proposed to assemble it, and for 3'RR SHM functions beyond transcriptional activation.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42804635 · DOI · PMC13643152
CpG hypermethylation and WNT/AP-1 cooperativity define the epigenetic landscape and a clinical subgroup of high-risk pediatric adrenocortical carcinoma [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Pediatric adrenocortical tumors are rare, clinically heterogeneous neoplasms with unpredictable outcomes and limited treatment options.
- Closing excerpt
- These findings establish a molecular framework for risk stratification and identify actionable therapeutic vulnerabilities, providing an essential resource for studying this molecularly uncharted pediatric malignancy.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (136 words)
Pediatric adrenocortical tumors are rare, clinically heterogeneous neoplasms with unpredictable outcomes and limited treatment options. Through integrated multi-omic analysis of 214 pediatric adrenocortical tumors combining DNA methylation profiling, transcriptomics, chromatin accessibility, and spatial deconvolution, we identify four distinct risk groups. A high-risk subgroup is characterized by CpG island hypermethylation, chromosomal instability, and dismal survival. These tumors exhibit transcriptional co-activation of WNT signalling and activator protein-1 transcriptional programs and display balanced admixture of zona glomerulosa and zona fasciculata/reticularis-like cells. Spatial analysis reveals zona glomerulosa cells as WNT signaling hubs driving intercellular crosstalk. Mechanistically, the histone deacetylase inhibitor entinostat reverses promoter methylation, silences activator protein-1 activity, and induces apoptotic reprogramming in tumor models. These findings establish a molecular framework for risk stratification and identify actionable therapeutic vulnerabilities, providing an essential resource for studying this molecularly uncharted pediatric malignancy.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42736301 · DOI · PMC13575229
Developmental bias of body size and caste by the fire ant social supergene [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Supergenes are clusters of linked genes that drive complex phenotypic divergence.
- Closing excerpt
- Overall, our results are consistent with incompletely penetrant effects of a supergene on developmental trajectories linked to size-based caste allocation in a highly social insect.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (166 words)
Supergenes are clusters of linked genes that drive complex phenotypic divergence. In the fire ant Solenopsis invicta, a supergene determines polymorphic social organization, and its derived (b) haplotype is over-represented among large workers and gynes relative to the ancestral (B) haplotype, acting as a selfish genetic element. We tested whether this caste bias reflects altered juvenile hormone (JH) mediated growth by treating colonies with a JH analogue. We show that BB and Bb pupae reach similar maximal sizes and exhibit a comparable JH-mediated growth response despite consistent Bb over-representation in the upper size classes. We also used developmental gene expression data from another ant to reveal significantly enriched overlap between genes with differential expression by supergene genotype and orthologues with differential expression between gyne- and worker-destined larvae. This overlap could be shaped in part by observed cis-regulatory evolution of the supergene. Overall, our results are consistent with incompletely penetrant effects of a supergene on developmental trajectories linked to size-based caste allocation in a highly social insect.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42838556 · DOI · PMC13641908
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies [4]
- Research article Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk [5]
- Research article Genome-wide association study identifies 30 loci associated with bipolar disorder [6]
- Research article Mapping the human genetic architecture of COVID-19 [7]
- Research article A catalog of genetic loci associated with kidney function from analyses of a million individuals [8]
- Research article Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways [9]
References
- Guan Y, Mikhova M, Yang Z, Xu K, Xie S, Lin X, et al.. Human antibody heavy chain variable region exon interacts with the 3' regulatory region to form a stable somatic hypermutation center. . 2026. PMID 42804635 · DOI · PMC13643152
- Fincke VE, Loßner M, Kunstreich M, Reitsam NG, Sax I, Mucha M, et al.. CpG hypermethylation and WNT/AP-1 cooperativity define the epigenetic landscape and a clinical subgroup of high-risk pediatric adrenocortical carcinoma. . 2026. PMID 42736301 · DOI · PMC13575229
- Zeng H, Eidson CE, Cushman DA, Nascimento M, Jones BM, Hunt BG. Developmental bias of body size and caste by the fire ant social supergene. . 2026. PMID 42838556 · DOI · PMC13641908
- Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, et al.. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurol. 2019. PMID 31701892 · DOI · PMC8422160
- Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, et al.. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. Nat Genet. 2019. PMID 30617256 · DOI · PMC6836675
- Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, et al.. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019. PMID 31043756 · DOI · PMC6956732
- COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021. PMID 34237774 · DOI · PMC8674144
- Wuttke M, Li Y, Li M, Sieber KB, Feitosa MF, Gorski M, et al.. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat Genet. 2019. PMID 31152163 · DOI · PMC6698888
- Jansen PR, Watanabe K, Stringer S, Skene N, Bryois J, Hammerschlag AR, et al.. Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways. Nat Genet. 2019. PMID 30804565 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.