FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1973670506> ?p ?o ?g. }

• W1973670506 abstract "Recent segmental duplications are relatively large (> or = 1 kb) genomic regions of high sequence identity (> or = 90%). They cover approximately 4-5% of the human genome and play important roles in gene evolution and genomic disease. The DNA sequence differences between copies of a segmental duplication represent the result of various mutational events over time, since any two duplication copies originated from the same ancestral DNA sequence. Based on this fact, we have developed a computational scheme for inference of point mutational events in human segmental duplications, which we collectively term duplication-inferred mutations (DIMs). We have characterized these nucleotide substitutions by comparing them with high-quality SNPs from dbSNP, both in terms of sequence context and frequency of substitution types.Overall, DIMs show a lower ratio of transitions relative to transversions than SNPs, although this ratio approaches that of SNPs when considering DIMs within most recent duplications. Our findings indicate that DIMs and SNPs in general are caused by similar mutational mechanisms, with some deviances at the CpG dinucleotide. Furthermore, we discover a large number of reference SNPs that coincide with computationally inferred DIMs. The latter reflects how sequence variation in duplicated sequences can be misinterpreted as ordinary allelic variation.In summary, we show how DNA sequence analysis of segmental duplications can provide a genome-wide mutational spectrum that mirrors recent genome evolution. The inferred set of nucleotide substitutions represents a valuable complement to SNPs for the analysis of genetic variation and point mutagenesis." @default.
• W1973670506 created "2016-06-24" @default.
• W1973670506 creator A5031803655 @default.
• W1973670506 creator A5039624519 @default.
• W1973670506 creator A5083493986 @default.
• W1973670506 creator A5088763169 @default.
• W1973670506 date "2009-01-22" @default.
• W1973670506 modified "2023-10-16" @default.
• W1973670506 title "Large-scale inference of the point mutational spectrum in human segmental duplications" @default.
• W1973670506 cites W1551836412 @default.
• W1973670506 cites W1968002146 @default.
• W1973670506 cites W1969461149 @default.
• W1973670506 cites W1975297840 @default.
• W1973670506 cites W1982379208 @default.
• W1973670506 cites W1990595844 @default.
• W1973670506 cites W2000026908 @default.
• W1973670506 cites W2007349518 @default.
• W1973670506 cites W2008050897 @default.
• W1973670506 cites W2012719938 @default.
• W1973670506 cites W2013413025 @default.
• W1973670506 cites W2021829013 @default.
• W1973670506 cites W2021998028 @default.
• W1973670506 cites W2023138117 @default.
• W1973670506 cites W2023195692 @default.
• W1973670506 cites W2025606236 @default.
• W1973670506 cites W2027172311 @default.
• W1973670506 cites W2031249741 @default.
• W1973670506 cites W2031946640 @default.
• W1973670506 cites W2034105248 @default.
• W1973670506 cites W2034384832 @default.
• W1973670506 cites W2044680253 @default.
• W1973670506 cites W2045040686 @default.
• W1973670506 cites W2050455558 @default.
• W1973670506 cites W2058401000 @default.
• W1973670506 cites W2058970027 @default.
• W1973670506 cites W2063235239 @default.
• W1973670506 cites W2065461553 @default.
• W1973670506 cites W2069902477 @default.
• W1973670506 cites W2076032878 @default.
• W1973670506 cites W2076845646 @default.
• W1973670506 cites W2081229967 @default.
• W1973670506 cites W2081747108 @default.
• W1973670506 cites W2086015868 @default.
• W1973670506 cites W2086564328 @default.
• W1973670506 cites W2086632920 @default.
• W1973670506 cites W2087700126 @default.
• W1973670506 cites W2088156872 @default.
• W1973670506 cites W2093908800 @default.
• W1973670506 cites W2094395530 @default.
• W1973670506 cites W2105552887 @default.
• W1973670506 cites W2111822939 @default.
• W1973670506 cites W2112684785 @default.
• W1973670506 cites W2113446294 @default.
• W1973670506 cites W2122732537 @default.
• W1973670506 cites W2135196291 @default.
• W1973670506 cites W2135224090 @default.
• W1973670506 cites W2136655120 @default.
• W1973670506 cites W2144662851 @default.
• W1973670506 cites W2149265762 @default.
• W1973670506 cites W2155913747 @default.
• W1973670506 cites W2155919888 @default.
• W1973670506 cites W2161167739 @default.
• W1973670506 cites W4238737563 @default.
• W1973670506 doi "https://doi.org/10.1186/1471-2164-10-43" @default.
• W1973670506 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2640414" @default.
• W1973670506 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19161616" @default.
• W1973670506 hasPublicationYear "2009" @default.
• W1973670506 type Work @default.
• W1973670506 sameAs 1973670506 @default.
• W1973670506 citedByCount "9" @default.
• W1973670506 countsByYear W19736705062013 @default.
• W1973670506 countsByYear W19736705062015 @default.
• W1973670506 countsByYear W19736705062017 @default.
• W1973670506 countsByYear W19736705062022 @default.
• W1973670506 countsByYear W19736705062023 @default.
• W1973670506 crossrefType "journal-article" @default.
• W1973670506 hasAuthorship W1973670506A5031803655 @default.
• W1973670506 hasAuthorship W1973670506A5039624519 @default.
• W1973670506 hasAuthorship W1973670506A5083493986 @default.
• W1973670506 hasAuthorship W1973670506A5088763169 @default.
• W1973670506 hasBestOaLocation W19736705061 @default.
• W1973670506 hasConcept C104317684 @default.
• W1973670506 hasConcept C141231307 @default.
• W1973670506 hasConcept C151020129 @default.
• W1973670506 hasConcept C151730666 @default.
• W1973670506 hasConcept C189206191 @default.
• W1973670506 hasConcept C197077220 @default.
• W1973670506 hasConcept C2778112365 @default.
• W1973670506 hasConcept C2779343474 @default.
• W1973670506 hasConcept C51679486 @default.
• W1973670506 hasConcept C54355233 @default.
• W1973670506 hasConcept C57808653 @default.
• W1973670506 hasConcept C5911399 @default.
• W1973670506 hasConcept C70721500 @default.
• W1973670506 hasConcept C7602840 @default.
• W1973670506 hasConcept C86803240 @default.
• W1973670506 hasConceptScore W1973670506C104317684 @default.
• W1973670506 hasConceptScore W1973670506C141231307 @default.
• W1973670506 hasConceptScore W1973670506C151020129 @default.
• W1973670506 hasConceptScore W1973670506C151730666 @default.

• next