Quantifying the mechanisms for segmental duplications in mammalian genomes by statistical analysis and modeling
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A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
No Canadian affiliation. An affiliation-only frame — the usual design — would never have seen this work. It is one of the works that make the case for inverting the frame.
The three-model screen
all 1,000 screened works →All three models called this out of scope.
Statistical modelling of the molecular mechanisms of segmental duplication in mammalian genomes.
It models mechanisms of mammalian genomic duplication, not research methods or research governance.
Genomics study of mechanisms of mammalian segmental duplications; domain biology.
Abstract
A large number of the segmental duplications in mammalian genomes have been cataloged by genome-wide sequence analyses. The molecular mechanisms involved in these duplications mostly remain a matter of speculation. To uncover, test, and further quantify the hypotheses on the mechanisms for the recent duplications in the mammalian genomes, we have performed a series of statistical analyses on the sequences flanking the duplicated segments and proposed a dynamic model for the duplication process. The model, when applied to the human duplication data, indicates that approximately 30% of the recent human segmental duplications were caused by a recombination-like mechanism, among which 12% were mediated by the most recently active repeat, Alu. But a significant proportion of the duplications are caused by some mechanism independent of the repeat distribution. A less sure but similar picture is found in the rodent genomes. A further analysis on the physical features of the flanking sequences suggests that one of the uncharacterized duplication mechanisms shared by the mammalian genomes is surprisingly well correlated with the physical instability in the DNA sequences.
Stored with the screening record, where it is evidence for the labels above.
The record
- Venue
- Proceedings of the National Academy of Sciences
- Topic
- Chromosomal and Genetic Variations
- Field
- Agricultural and Biological Sciences
- Canadian institutions
- —
- Funders
- U.S. Air ForceDefense Advanced Research Projects AgencyYork UniversityOffice of ScienceAir Force Research LaboratoryDivision of Mathematical SciencesAdvanced Research Projects AgencyNational Institutes of HealthNational Science Foundation
- Keywords
- Gene duplicationGenomeSegmental duplicationBiologyGeneticsGenome instabilityHuman genomeSequence (biology)Mechanism (biology)Evolutionary biologyComputational biologyDNAGeneGene familyDNA damage
- Has abstract in OpenAlex
- yes