ReviewProceedings of the National Academy of Sciences of the United States of America2010
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.
Review in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia.Psychiatric genetics · 2012Pooled it
- Increased paternal age and the influence on burden of genomic copy number variation in the general population.Human genetics · 2013Trial
- Clinical,medRxiv : the preprint server for health sciences · 2026Article
- Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain.Nucleic acids research · 2025Article
- Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.International journal of molecular sciences · 2023Article
- Evolutionary honing in and mutational replacement: how long-term directed mutational responses to specific environmental pressures are possible.Theory in biosciences = Theorie in den Biowissenschaften · 2023Review
- Genes that are Used Together are More Likely to be Fused Together in Evolution by Mutational Mechanisms: A Bioinformatic Test of the Used-Fused Hypothesis.Evolutionary biology · 2023Article
- Can Introns Stabilize Gene Duplication?Biology · 2022Article
- Retention of duplicated genes in evolution.Trends in genetics : TIG · 2022Review
- Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.Frontiers in genetics · 2022Review
- Clan genomics: From OMIM phenotypic traits to genes and biology.American journal of medical genetics. Part A · 2021Article
- New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.Brain sciences · 2020Review
- Circular DNA intermediates in the generation of large human segmental duplications.BMC genomics · 2020Article
- Translesion synthesis polymerases contribute to meiotic chromosome segregation and cohesin dynamics inJournal of cell science · 2020Article
- Genomic Variation, Evolvability, and the Paradox of Mental Illness.Frontiers in psychiatry · 2020Article
- Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.The Journal of clinical investigation · 2019Article
- Analysis of the 9p21.3 sequence associated with coronary artery disease reveals a tendency for duplication in a CAD patient.Oncotarget · 2018Article
- Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH).PloS one · 2018Article
- Systematic Identification of Determinants for Single-Strand Annealing-Mediated Deletion Formation inG3 (Bethesda, Md.) · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene duplications alter the genetic constitution of organisms and can be a driving force of molecular evolution in humans and the great apes. In this context, the study of genomic disorders has uncovered the essential role played by the genomic architecture, especially low copy repeats (LCRs) or segmental duplications (SDs). In fact, regardless of the mechanism, LCRs can mediate or stimulate rearrangements, inciting genomic instability and generating dynamic and unstable regions prone to rapid molecular evolution. In humans, copy-number variation (CNV) has been implicated in common traits such as neuropathy, hypertension, color blindness, infertility, and behavioral traits including autism and schizophrenia, as well as disease susceptibility to HIV, lupus nephritis, and psoriasis among many other clinical phenotypes. The same mechanisms implicated in the origin of genomic disorders may also play a role in the emergence of segmental duplications and the evolution of new genes by means of genomic and gene duplication and triplication, exon shuffling, exon accretion, and fusion/fission events.
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.