FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310937499> ?p ?o ?g. }

• W4310937499 endingPage "362" @default.
• W4310937499 startingPage "351" @default.
• W4310937499 abstract "Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient's phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnoses outside of the panel(s) applied. We propose a complementary method to rapidly identify pathogenic variants, including those missed by 100KGP methods.The Loss-of-function Observed/Expected Upper-bound Fraction (LOEUF) score quantifies gene constraint, with low scores correlated with haploinsufficiency. We applied DeNovoLOEUF, a filtering strategy to sequencing data from 13,949 rare disease trios in the 100KGP, by filtering for rare, de novo, loss-of-function variants in disease genes with a LOEUF score < 0.2. We compared our findings with the corresponding patient's diagnostic reports.324/332 (98%) of the variants identified using DeNovoLOEUF were diagnostic or partially diagnostic (whereby the variant was responsible for some of the phenotype). We identified 39 diagnoses that were missed by 100KGP standard analyses, which are now being returned to patients.We have demonstrated a highly specific and rapid method with a 98% positive predictive value that has good concordance with standard analysis, low false-positive rate, and can identify additional diagnoses. Globally, as more patients are being offered genome sequencing, we anticipate that DeNovoLOEUF will rapidly identify new diagnoses and facilitate iterative analyses when new disease genes are discovered." @default.
• W4310937499 created "2022-12-21" @default.
• W4310937499 creator A5000639146 @default.
• W4310937499 creator A5001767892 @default.
• W4310937499 creator A5002940859 @default.
• W4310937499 creator A5013910686 @default.
• W4310937499 creator A5014144046 @default.
• W4310937499 creator A5037760155 @default.
• W4310937499 creator A5061790199 @default.
• W4310937499 creator A5073568174 @default.
• W4310937499 creator A5075965119 @default.
• W4310937499 date "2022-12-07" @default.
• W4310937499 modified "2023-10-15" @default.
• W4310937499 title "Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project" @default.
• W4310937499 cites W2051978340 @default.
• W4310937499 cites W2136410628 @default.
• W4310937499 cites W2138014988 @default.
• W4310937499 cites W2143602768 @default.
• W4310937499 cites W2154866190 @default.
• W4310937499 cites W2162151166 @default.
• W4310937499 cites W2246559112 @default.
• W4310937499 cites W2782886905 @default.
• W4310937499 cites W2799324424 @default.
• W4310937499 cites W2911161668 @default.
• W4310937499 cites W2912716677 @default.
• W4310937499 cites W2984251519 @default.
• W4310937499 cites W3024233049 @default.
• W4310937499 cites W3029661147 @default.
• W4310937499 cites W3031073114 @default.
• W4310937499 cites W3161833585 @default.
• W4310937499 cites W3173733146 @default.
• W4310937499 cites W3191863810 @default.
• W4310937499 cites W4206843666 @default.
• W4310937499 cites W4210314012 @default.
• W4310937499 cites W4223478012 @default.
• W4310937499 cites W4224014283 @default.
• W4310937499 cites W4226322299 @default.
• W4310937499 cites W4229070142 @default.
• W4310937499 cites W4229442086 @default.
• W4310937499 doi "https://doi.org/10.1007/s00439-022-02509-x" @default.
• W4310937499 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36477409" @default.
• W4310937499 hasPublicationYear "2022" @default.
• W4310937499 type Work @default.
• W4310937499 citedByCount "2" @default.
• W4310937499 countsByYear W43109374992023 @default.
• W4310937499 crossrefType "journal-article" @default.
• W4310937499 hasAuthorship W4310937499A5000639146 @default.
• W4310937499 hasAuthorship W4310937499A5001767892 @default.
• W4310937499 hasAuthorship W4310937499A5002940859 @default.
• W4310937499 hasAuthorship W4310937499A5013910686 @default.
• W4310937499 hasAuthorship W4310937499A5014144046 @default.
• W4310937499 hasAuthorship W4310937499A5037760155 @default.
• W4310937499 hasAuthorship W4310937499A5061790199 @default.
• W4310937499 hasAuthorship W4310937499A5073568174 @default.
• W4310937499 hasAuthorship W4310937499A5075965119 @default.
• W4310937499 hasBestOaLocation W43109374991 @default.
• W4310937499 hasConcept C104317684 @default.
• W4310937499 hasConcept C105951970 @default.
• W4310937499 hasConcept C126322002 @default.
• W4310937499 hasConcept C127716648 @default.
• W4310937499 hasConcept C135763542 @default.
• W4310937499 hasConcept C141231307 @default.
• W4310937499 hasConcept C142724271 @default.
• W4310937499 hasConcept C153209595 @default.
• W4310937499 hasConcept C160798450 @default.
• W4310937499 hasConcept C24432333 @default.
• W4310937499 hasConcept C2779134260 @default.
• W4310937499 hasConcept C47042493 @default.
• W4310937499 hasConcept C534262118 @default.
• W4310937499 hasConcept C54355233 @default.
• W4310937499 hasConcept C68838962 @default.
• W4310937499 hasConcept C70721500 @default.
• W4310937499 hasConcept C71924100 @default.
• W4310937499 hasConcept C86803240 @default.
• W4310937499 hasConcept C97425143 @default.
• W4310937499 hasConceptScore W4310937499C104317684 @default.
• W4310937499 hasConceptScore W4310937499C105951970 @default.
• W4310937499 hasConceptScore W4310937499C126322002 @default.
• W4310937499 hasConceptScore W4310937499C127716648 @default.
• W4310937499 hasConceptScore W4310937499C135763542 @default.
• W4310937499 hasConceptScore W4310937499C141231307 @default.
• W4310937499 hasConceptScore W4310937499C142724271 @default.
• W4310937499 hasConceptScore W4310937499C153209595 @default.
• W4310937499 hasConceptScore W4310937499C160798450 @default.
• W4310937499 hasConceptScore W4310937499C24432333 @default.
• W4310937499 hasConceptScore W4310937499C2779134260 @default.
• W4310937499 hasConceptScore W4310937499C47042493 @default.
• W4310937499 hasConceptScore W4310937499C534262118 @default.
• W4310937499 hasConceptScore W4310937499C54355233 @default.
• W4310937499 hasConceptScore W4310937499C68838962 @default.
• W4310937499 hasConceptScore W4310937499C70721500 @default.
• W4310937499 hasConceptScore W4310937499C71924100 @default.
• W4310937499 hasConceptScore W4310937499C86803240 @default.
• W4310937499 hasConceptScore W4310937499C97425143 @default.
• W4310937499 hasFunder F4320313336 @default.
• W4310937499 hasFunder F4320319990 @default.
• W4310937499 hasFunder F4320337346 @default.
• W4310937499 hasFunder F4320337348 @default.

• next