FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2042989455> ?p ?o ?g. }

• W2042989455 endingPage "97" @default.
• W2042989455 startingPage "97e" @default.
• W2042989455 abstract "Mutations cause or influence the prevalence of many diseases. In human tissues, somatic point mutations have been observed at fractions at or below 4/10,000 and 5/100,000 in mitochondrial and nuclear DNA, respectively. In human populations, fractions for the multiple alleles that code for recessive deleterious syndromes are not expected to exceed 5 x 10(-4). Both nuclear and mitochondrial point mutations have been measured in human cells and tissues at fractions approaching 10(-6) using constant denaturant capillary electrophoresis (CDCE) coupled with high-fidelity PCR (hifiPCR). However, this approach is only applicable to those target sequences (approximately 100 bp) juxtaposed with a 'clamp', a higher-melting-temperature sequence, in genomic DNA; such naturally clamped targets represent approximately 9% of the human genome. To open up most of the human genome to rare point-mutational analysis, a high-efficiency DNA ligation procedure was recently developed so that a clamp could be attached to any target of interest. We coupled this ligation procedure with prior CDCE/hifiPCR and achieved a sensitivity of 2 x 10(-5) in human cells for the first time using an externally attached clamp. At this sensitivity, somatic mutations, each representing an anatomically distinct cluster of cells (turnover unit) derived from a mutant stem cell, may be detected in a series of tissue samples, each containing as many as 5 x 10(4) turnover units. Additionally, rare inherited mutations may be scanned in pooled DNA samples, each derived from as many as 10(5) persons." @default.
• W2042989455 created "2016-06-24" @default.
• W2042989455 creator A5006763151 @default.
• W2042989455 creator A5049356247 @default.
• W2042989455 date "2003-08-15" @default.
• W2042989455 modified "2023-09-27" @default.
• W2042989455 title "Ligation of high-melting-temperature 'clamp' sequence extends the scanning range of rare point-mutational analysis by constant denaturant capillary electrophoresis (CDCE) to most of the human genome" @default.
• W2042989455 cites W1377731 @default.
• W2042989455 cites W1483046960 @default.
• W2042989455 cites W1523890035 @default.
• W2042989455 cites W1531122732 @default.
• W2042989455 cites W1965207804 @default.
• W2042989455 cites W1967832649 @default.
• W2042989455 cites W1973997983 @default.
• W2042989455 cites W1975388425 @default.
• W2042989455 cites W1978719997 @default.
• W2042989455 cites W1983760450 @default.
• W2042989455 cites W1984367999 @default.
• W2042989455 cites W1984986522 @default.
• W2042989455 cites W1987666378 @default.
• W2042989455 cites W1987802717 @default.
• W2042989455 cites W1989213989 @default.
• W2042989455 cites W1989499627 @default.
• W2042989455 cites W1995535123 @default.
• W2042989455 cites W1996068843 @default.
• W2042989455 cites W2002153794 @default.
• W2042989455 cites W2003451722 @default.
• W2042989455 cites W2003912123 @default.
• W2042989455 cites W2006762876 @default.
• W2042989455 cites W2008315221 @default.
• W2042989455 cites W2018762339 @default.
• W2042989455 cites W2023154900 @default.
• W2042989455 cites W2026597923 @default.
• W2042989455 cites W2034349902 @default.
• W2042989455 cites W2043371191 @default.
• W2042989455 cites W2046775765 @default.
• W2042989455 cites W2053487215 @default.
• W2042989455 cites W2058093686 @default.
• W2042989455 cites W2063031396 @default.
• W2042989455 cites W2063134544 @default.
• W2042989455 cites W2063239546 @default.
• W2042989455 cites W2063894827 @default.
• W2042989455 cites W2068128427 @default.
• W2042989455 cites W2072767862 @default.
• W2042989455 cites W2075803985 @default.
• W2042989455 cites W2081608552 @default.
• W2042989455 cites W2081958531 @default.
• W2042989455 cites W2083589756 @default.
• W2042989455 cites W2084695608 @default.
• W2042989455 cites W2086632920 @default.
• W2042989455 cites W2091106301 @default.
• W2042989455 cites W2097432692 @default.
• W2042989455 cites W2103170384 @default.
• W2042989455 cites W2104092653 @default.
• W2042989455 cites W2113647632 @default.
• W2042989455 cites W2118144642 @default.
• W2042989455 cites W2128692282 @default.
• W2042989455 cites W2134259738 @default.
• W2042989455 cites W2142721075 @default.
• W2042989455 cites W2145311627 @default.
• W2042989455 cites W2151838624 @default.
• W2042989455 cites W2158109898 @default.
• W2042989455 cites W2159594827 @default.
• W2042989455 cites W2185913671 @default.
• W2042989455 cites W23116604 @default.
• W2042989455 cites W2416392929 @default.
• W2042989455 cites W2416688268 @default.
• W2042989455 doi "https://doi.org/10.1093/nar/gng099" @default.
• W2042989455 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/169989" @default.
• W2042989455 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12907749" @default.
• W2042989455 hasPublicationYear "2003" @default.
• W2042989455 type Work @default.
• W2042989455 sameAs 2042989455 @default.
• W2042989455 citedByCount "10" @default.
• W2042989455 countsByYear W20429894552014 @default.
• W2042989455 crossrefType "journal-article" @default.
• W2042989455 hasAuthorship W2042989455A5006763151 @default.
• W2042989455 hasAuthorship W2042989455A5049356247 @default.
• W2042989455 hasBestOaLocation W20429894551 @default.
• W2042989455 hasConcept C104317684 @default.
• W2042989455 hasConcept C134305767 @default.
• W2042989455 hasConcept C141231307 @default.
• W2042989455 hasConcept C143065580 @default.
• W2042989455 hasConcept C153911025 @default.
• W2042989455 hasConcept C176944494 @default.
• W2042989455 hasConcept C179437574 @default.
• W2042989455 hasConcept C197077220 @default.
• W2042989455 hasConcept C24586158 @default.
• W2042989455 hasConcept C2900643 @default.
• W2042989455 hasConcept C54355233 @default.
• W2042989455 hasConcept C552990157 @default.
• W2042989455 hasConcept C86803240 @default.
• W2042989455 hasConceptScore W2042989455C104317684 @default.
• W2042989455 hasConceptScore W2042989455C134305767 @default.
• W2042989455 hasConceptScore W2042989455C141231307 @default.
• W2042989455 hasConceptScore W2042989455C143065580 @default.
• W2042989455 hasConceptScore W2042989455C153911025 @default.
• W2042989455 hasConceptScore W2042989455C176944494 @default.

• next