FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1989298969> ?p ?o ?g. }

• W1989298969 endingPage "968" @default.
• W1989298969 startingPage "961" @default.
• W1989298969 abstract "Although mutation provides the fuel for phenotypic evolution, it also imposes a substantial burden on fitness through the production of predominantly deleterious alleles, a matter of concern from a human-health perspective. Here, recently established databases on de novo mutations for monogenic disorders are used to estimate the rate and molecular spectrum of spontaneously arising mutations and to derive a number of inferences with respect to eukaryotic genome evolution. Although the human per-generation mutation rate is exceptionally high, on a per-cell division basis, the human germline mutation rate is lower than that recorded for any other species. Comparison with data from other species demonstrates a universal mutational bias toward A/T composition, and leads to the hypothesis that genome-wide nucleotide composition generally evolves to the point at which the power of selection in favor of G/C is approximately balanced by the power of random genetic drift, such that variation in equilibrium genome-wide nucleotide composition is largely defined by variation in mutation biases. Quantification of the hazards associated with introns reveals that mutations at key splice-site residues are a major source of human mortality. Finally, a consideration of the long-term consequences of current human behavior for deleterious-mutation accumulation leads to the conclusion that a substantial reduction in human fitness can be expected over the next few centuries in industrialized societies unless novel means of genetic intervention are developed." @default.
• W1989298969 created "2016-06-24" @default.
• W1989298969 creator A5053297258 @default.
• W1989298969 date "2010-01-04" @default.
• W1989298969 modified "2023-10-16" @default.
• W1989298969 title "Rate, molecular spectrum, and consequences of human mutation" @default.
• W1989298969 cites W1953627784 @default.
• W1989298969 cites W1977852064 @default.
• W1989298969 cites W1978098897 @default.
• W1989298969 cites W1983679519 @default.
• W1989298969 cites W1983919388 @default.
• W1989298969 cites W1985436299 @default.
• W1989298969 cites W1994851065 @default.
• W1989298969 cites W1998228484 @default.
• W1989298969 cites W1998646180 @default.
• W1989298969 cites W2004391041 @default.
• W1989298969 cites W2011264370 @default.
• W1989298969 cites W2020389857 @default.
• W1989298969 cites W2023723397 @default.
• W1989298969 cites W2038478919 @default.
• W1989298969 cites W2042903453 @default.
• W1989298969 cites W2045415720 @default.
• W1989298969 cites W2047326154 @default.
• W1989298969 cites W2058689581 @default.
• W1989298969 cites W2061442220 @default.
• W1989298969 cites W2062407642 @default.
• W1989298969 cites W2067337584 @default.
• W1989298969 cites W2067361082 @default.
• W1989298969 cites W2076547880 @default.
• W1989298969 cites W2077751281 @default.
• W1989298969 cites W2093774400 @default.
• W1989298969 cites W2094395530 @default.
• W1989298969 cites W2095316280 @default.
• W1989298969 cites W2095601079 @default.
• W1989298969 cites W2102551017 @default.
• W1989298969 cites W2110380130 @default.
• W1989298969 cites W2119514073 @default.
• W1989298969 cites W2119656112 @default.
• W1989298969 cites W2119741000 @default.
• W1989298969 cites W2123174009 @default.
• W1989298969 cites W2126526684 @default.
• W1989298969 cites W2138155367 @default.
• W1989298969 cites W2139792356 @default.
• W1989298969 cites W2141772270 @default.
• W1989298969 cites W2142458597 @default.
• W1989298969 cites W2143470360 @default.
• W1989298969 cites W2144880743 @default.
• W1989298969 cites W2145406188 @default.
• W1989298969 cites W2145802742 @default.
• W1989298969 cites W2150172942 @default.
• W1989298969 cites W2150806772 @default.
• W1989298969 cites W2153220158 @default.
• W1989298969 cites W2154225779 @default.
• W1989298969 cites W2157848631 @default.
• W1989298969 cites W2169225803 @default.
• W1989298969 cites W2171412952 @default.
• W1989298969 cites W4255633404 @default.
• W1989298969 doi "https://doi.org/10.1073/pnas.0912629107" @default.
• W1989298969 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2824313" @default.
• W1989298969 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20080596" @default.
• W1989298969 hasPublicationYear "2010" @default.
• W1989298969 type Work @default.
• W1989298969 sameAs 1989298969 @default.
• W1989298969 citedByCount "693" @default.
• W1989298969 countsByYear W19892989692012 @default.
• W1989298969 countsByYear W19892989692013 @default.
• W1989298969 countsByYear W19892989692014 @default.
• W1989298969 countsByYear W19892989692015 @default.
• W1989298969 countsByYear W19892989692016 @default.
• W1989298969 countsByYear W19892989692017 @default.
• W1989298969 countsByYear W19892989692018 @default.
• W1989298969 countsByYear W19892989692019 @default.
• W1989298969 countsByYear W19892989692020 @default.
• W1989298969 countsByYear W19892989692021 @default.
• W1989298969 countsByYear W19892989692022 @default.
• W1989298969 countsByYear W19892989692023 @default.
• W1989298969 crossrefType "journal-article" @default.
• W1989298969 hasAuthorship W1989298969A5053297258 @default.
• W1989298969 hasBestOaLocation W19892989692 @default.
• W1989298969 hasConcept C104317684 @default.
• W1989298969 hasConcept C141231307 @default.
• W1989298969 hasConcept C176944494 @default.
• W1989298969 hasConcept C180754005 @default.
• W1989298969 hasConcept C197077220 @default.
• W1989298969 hasConcept C2910240311 @default.
• W1989298969 hasConcept C501734568 @default.
• W1989298969 hasConcept C54355233 @default.
• W1989298969 hasConcept C68873052 @default.
• W1989298969 hasConcept C80990810 @default.
• W1989298969 hasConcept C86803240 @default.
• W1989298969 hasConcept C98638677 @default.
• W1989298969 hasConceptScore W1989298969C104317684 @default.
• W1989298969 hasConceptScore W1989298969C141231307 @default.
• W1989298969 hasConceptScore W1989298969C176944494 @default.
• W1989298969 hasConceptScore W1989298969C180754005 @default.
• W1989298969 hasConceptScore W1989298969C197077220 @default.
• W1989298969 hasConceptScore W1989298969C2910240311 @default.
• W1989298969 hasConceptScore W1989298969C501734568 @default.

• next