FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2110921888> ?p ?o ?g. }

• W2110921888 endingPage "631" @default.
• W2110921888 startingPage "623" @default.
• W2110921888 abstract "Traditionally, genetic testing has been too slow or perceived to be impractical to initial management of the critically ill neonate. Technological advances have led to the ability to sequence and interpret the entire genome of a neonate in as little as 26 h. As the cost and speed of testing decreases, the utility of whole genome sequencing (WGS) of neonates for acute and latent genetic illness increases. Analyzing the entire genome allows for concomitant evaluation of the currently identified 5588 single gene diseases. When applied to a select population of ill infants in a level IV neonatal intensive care unit, WGS yielded a diagnosis of a causative genetic disease in 57% of patients. These diagnoses may lead to clinical management changes ranging from transition to palliative care for uniformly lethal conditions for alteration or initiation of medical or surgical therapy to improve outcomes in others. Thus, institution of 2-day WGS at time of acute presentation opens the possibility of early implementation of precision medicine. This implementation may create opportunities for early interventional, frequently novel or off-label therapies that may alter disease trajectory in infants with what would otherwise be fatal disease. Widespread deployment of rapid WGS and precision medicine will raise ethical issues pertaining to interpretation of variants of unknown significance, discovery of incidental findings related to adult onset conditions and carrier status, and implementation of medical therapies for which little is known in terms of risks and benefits. Despite these challenges, precision neonatology has significant potential both to decrease infant mortality related to genetic diseases with onset in newborns and to facilitate parental decision making regarding transition to palliative care." @default.
• W2110921888 created "2016-06-24" @default.
• W2110921888 creator A5009566020 @default.
• W2110921888 creator A5021244841 @default.
• W2110921888 creator A5028153294 @default.
• W2110921888 creator A5046547801 @default.
• W2110921888 date "2015-12-01" @default.
• W2110921888 modified "2023-10-17" @default.
• W2110921888 title "Rapid whole genome sequencing and precision neonatology" @default.
• W2110921888 cites W1508659364 @default.
• W2110921888 cites W1560189574 @default.
• W2110921888 cites W1564182232 @default.
• W2110921888 cites W1969600342 @default.
• W2110921888 cites W1972332474 @default.
• W2110921888 cites W1973154957 @default.
• W2110921888 cites W1979084061 @default.
• W2110921888 cites W1982160915 @default.
• W2110921888 cites W1986700282 @default.
• W2110921888 cites W1992645575 @default.
• W2110921888 cites W1993523091 @default.
• W2110921888 cites W1997232458 @default.
• W2110921888 cites W2003873813 @default.
• W2110921888 cites W2005392064 @default.
• W2110921888 cites W2012361142 @default.
• W2110921888 cites W2018071662 @default.
• W2110921888 cites W2037529722 @default.
• W2110921888 cites W2042903453 @default.
• W2110921888 cites W2044558303 @default.
• W2110921888 cites W2051978340 @default.
• W2110921888 cites W2062210712 @default.
• W2110921888 cites W2067927950 @default.
• W2110921888 cites W2077751281 @default.
• W2110921888 cites W2080094665 @default.
• W2110921888 cites W2092196676 @default.
• W2110921888 cites W2100772802 @default.
• W2110921888 cites W2101305463 @default.
• W2110921888 cites W2104570606 @default.
• W2110921888 cites W2106628775 @default.
• W2110921888 cites W2115924787 @default.
• W2110921888 cites W2117131162 @default.
• W2110921888 cites W2132731072 @default.
• W2110921888 cites W2143887298 @default.
• W2110921888 cites W2146128933 @default.
• W2110921888 cites W2167030730 @default.
• W2110921888 cites W2167827709 @default.
• W2110921888 cites W2169479194 @default.
• W2110921888 cites W2171574910 @default.
• W2110921888 cites W220770808 @default.
• W2110921888 cites W2286209549 @default.
• W2110921888 doi "https://doi.org/10.1053/j.semperi.2015.09.009" @default.
• W2110921888 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4657860" @default.
• W2110921888 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26521050" @default.
• W2110921888 hasPublicationYear "2015" @default.
• W2110921888 type Work @default.
• W2110921888 sameAs 2110921888 @default.
• W2110921888 citedByCount "145" @default.
• W2110921888 countsByYear W21109218882016 @default.
• W2110921888 countsByYear W21109218882017 @default.
• W2110921888 countsByYear W21109218882018 @default.
• W2110921888 countsByYear W21109218882019 @default.
• W2110921888 countsByYear W21109218882020 @default.
• W2110921888 countsByYear W21109218882021 @default.
• W2110921888 countsByYear W21109218882022 @default.
• W2110921888 countsByYear W21109218882023 @default.
• W2110921888 crossrefType "journal-article" @default.
• W2110921888 hasAuthorship W2110921888A5009566020 @default.
• W2110921888 hasAuthorship W2110921888A5021244841 @default.
• W2110921888 hasAuthorship W2110921888A5028153294 @default.
• W2110921888 hasAuthorship W2110921888A5046547801 @default.
• W2110921888 hasBestOaLocation W21109218882 @default.
• W2110921888 hasConcept C104317684 @default.
• W2110921888 hasConcept C126322002 @default.
• W2110921888 hasConcept C141231307 @default.
• W2110921888 hasConcept C142724271 @default.
• W2110921888 hasConcept C163763905 @default.
• W2110921888 hasConcept C177713679 @default.
• W2110921888 hasConcept C187212893 @default.
• W2110921888 hasConcept C24432333 @default.
• W2110921888 hasConcept C2777091541 @default.
• W2110921888 hasConcept C2779134260 @default.
• W2110921888 hasConcept C2779234561 @default.
• W2110921888 hasConcept C2780673598 @default.
• W2110921888 hasConcept C2908647359 @default.
• W2110921888 hasConcept C32220436 @default.
• W2110921888 hasConcept C534262118 @default.
• W2110921888 hasConcept C536800656 @default.
• W2110921888 hasConcept C54355233 @default.
• W2110921888 hasConcept C60644358 @default.
• W2110921888 hasConcept C64474127 @default.
• W2110921888 hasConcept C71924100 @default.
• W2110921888 hasConcept C86803240 @default.
• W2110921888 hasConcept C99454951 @default.
• W2110921888 hasConceptScore W2110921888C104317684 @default.
• W2110921888 hasConceptScore W2110921888C126322002 @default.
• W2110921888 hasConceptScore W2110921888C141231307 @default.
• W2110921888 hasConceptScore W2110921888C142724271 @default.
• W2110921888 hasConceptScore W2110921888C163763905 @default.
• W2110921888 hasConceptScore W2110921888C177713679 @default.

• next