FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2980495554> ?p ?o ?g. }

• W2980495554 endingPage "12" @default.
• W2980495554 startingPage "1" @default.
• W2980495554 abstract "PURPOSE Clinical targeted sequencing panels are important for identifying actionable variants for patients with cancer; however, existing approaches do not provide transparent and rationally designed clinical panels to accommodate the rapidly growing knowledge within oncology. MATERIALS AND METHODS We used the Clinical Interpretations of Variants in Cancer (CIViC) database to develop an Open-Sourced CIViC Annotation Pipeline (OpenCAP). OpenCAP provides methods to identify variants within the CIViC database, build probes for variant capture, use probes on prospective samples, and link somatic variants to CIViC clinical relevance statements. OpenCAP was tested using a single-molecule molecular inversion probe (smMIP) capture design on 27 cancer samples from 5 tumor types. In total, 2,027 smMIPs were designed to target 111 eligible CIViC variants (61.5 kb of genomic space). RESULTS When compared with orthogonal sequencing, CIViC smMIP sequencing demonstrated a 95% sensitivity for variant detection (n = 61 of 64 variants). Variant allele frequencies for variants identified on both sequencing platforms were highly concordant (Pearson’s r = 0.885; n = 61 variants). Moreover, for individuals with paired tumor and normal samples (n = 12), 182 clinically relevant variants missed by orthogonal sequencing were discovered by CIViC smMIP sequencing. CONCLUSION The OpenCAP design paradigm demonstrates the utility of an open-source and open-access database built on attendant community contributions with peer-reviewed interpretations. Use of a public repository for variant identification, probe development, and variant interpretation provides a transparent approach to build dynamic next-generation sequencing–based oncology panels." @default.
• W2980495554 created "2019-10-25" @default.
• W2980495554 creator A5001076376 @default.
• W2980495554 creator A5006079706 @default.
• W2980495554 creator A5011846710 @default.
• W2980495554 creator A5016323798 @default.
• W2980495554 creator A5017692700 @default.
• W2980495554 creator A5027353344 @default.
• W2980495554 creator A5035700326 @default.
• W2980495554 creator A5036931711 @default.
• W2980495554 creator A5039638409 @default.
• W2980495554 creator A5049794515 @default.
• W2980495554 creator A5052134884 @default.
• W2980495554 creator A5058907044 @default.
• W2980495554 creator A5060893194 @default.
• W2980495554 creator A5064385855 @default.
• W2980495554 creator A5066002385 @default.
• W2980495554 creator A5067266092 @default.
• W2980495554 creator A5068824818 @default.
• W2980495554 creator A5080908320 @default.
• W2980495554 creator A5084130278 @default.
• W2980495554 date "2019-12-01" @default.
• W2980495554 modified "2023-10-16" @default.
• W2980495554 title "Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes" @default.
• W2980495554 cites W1547888106 @default.
• W2980495554 cites W2049656505 @default.
• W2980495554 cites W2060427373 @default.
• W2980495554 cites W2072931688 @default.
• W2980495554 cites W2104750097 @default.
• W2980495554 cites W2114843025 @default.
• W2980495554 cites W2129415103 @default.
• W2980495554 cites W2145922766 @default.
• W2980495554 cites W2148565184 @default.
• W2980495554 cites W2149440805 @default.
• W2980495554 cites W2149441684 @default.
• W2980495554 cites W2154866190 @default.
• W2980495554 cites W2162642395 @default.
• W2980495554 cites W223909586 @default.
• W2980495554 cites W2280793526 @default.
• W2980495554 cites W2340056105 @default.
• W2980495554 cites W2524510393 @default.
• W2980495554 cites W2541932182 @default.
• W2980495554 cites W2558715006 @default.
• W2980495554 cites W2583911935 @default.
• W2980495554 cites W2614443510 @default.
• W2980495554 cites W2621024393 @default.
• W2980495554 cites W2622576506 @default.
• W2980495554 cites W2892273485 @default.
• W2980495554 cites W2895452915 @default.
• W2980495554 cites W2949492942 @default.
• W2980495554 cites W3014707956 @default.
• W2980495554 doi "https://doi.org/10.1200/cci.19.00077" @default.
• W2980495554 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6873961" @default.
• W2980495554 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31618044" @default.
• W2980495554 hasPublicationYear "2019" @default.
• W2980495554 type Work @default.
• W2980495554 sameAs 2980495554 @default.
• W2980495554 citedByCount "6" @default.
• W2980495554 countsByYear W29804955542020 @default.
• W2980495554 countsByYear W29804955542021 @default.
• W2980495554 countsByYear W29804955542022 @default.
• W2980495554 countsByYear W29804955542023 @default.
• W2980495554 crossrefType "journal-article" @default.
• W2980495554 hasAuthorship W2980495554A5001076376 @default.
• W2980495554 hasAuthorship W2980495554A5006079706 @default.
• W2980495554 hasAuthorship W2980495554A5011846710 @default.
• W2980495554 hasAuthorship W2980495554A5016323798 @default.
• W2980495554 hasAuthorship W2980495554A5017692700 @default.
• W2980495554 hasAuthorship W2980495554A5027353344 @default.
• W2980495554 hasAuthorship W2980495554A5035700326 @default.
• W2980495554 hasAuthorship W2980495554A5036931711 @default.
• W2980495554 hasAuthorship W2980495554A5039638409 @default.
• W2980495554 hasAuthorship W2980495554A5049794515 @default.
• W2980495554 hasAuthorship W2980495554A5052134884 @default.
• W2980495554 hasAuthorship W2980495554A5058907044 @default.
• W2980495554 hasAuthorship W2980495554A5060893194 @default.
• W2980495554 hasAuthorship W2980495554A5064385855 @default.
• W2980495554 hasAuthorship W2980495554A5066002385 @default.
• W2980495554 hasAuthorship W2980495554A5067266092 @default.
• W2980495554 hasAuthorship W2980495554A5068824818 @default.
• W2980495554 hasAuthorship W2980495554A5080908320 @default.
• W2980495554 hasAuthorship W2980495554A5084130278 @default.
• W2980495554 hasBestOaLocation W29804955541 @default.
• W2980495554 hasConcept C104317684 @default.
• W2980495554 hasConcept C116834253 @default.
• W2980495554 hasConcept C199360897 @default.
• W2980495554 hasConcept C2776321320 @default.
• W2980495554 hasConcept C2777904410 @default.
• W2980495554 hasConcept C3018397939 @default.
• W2980495554 hasConcept C41008148 @default.
• W2980495554 hasConcept C43521106 @default.
• W2980495554 hasConcept C51679486 @default.
• W2980495554 hasConcept C54355233 @default.
• W2980495554 hasConcept C59822182 @default.
• W2980495554 hasConcept C70721500 @default.
• W2980495554 hasConcept C86803240 @default.
• W2980495554 hasConceptScore W2980495554C104317684 @default.
• W2980495554 hasConceptScore W2980495554C116834253 @default.

• next