FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3128433086> ?p ?o ?g. }

• W3128433086 endingPage "1074" @default.
• W3128433086 startingPage "1065" @default.
• W3128433086 abstract "We describe the clinical implementation of genome-wide DNA methylation analysis in rare disorders across the EpiSign diagnostic laboratory network and the assessment of results and clinical impact in the first subjects tested.We outline the logistics and data flow between an integrated network of clinical diagnostics laboratories in Europe, the United States, and Canada. We describe the clinical validation of EpiSign using 211 specimens and assess the test performance and diagnostic yield in the first 207 subjects tested involving two patient subgroups: the targeted cohort (subjects with previous ambiguous/inconclusive genetic findings including genetic variants of unknown clinical significance) and the screening cohort (subjects with clinical findings consistent with hereditary neurodevelopmental syndromes and no previous conclusive genetic findings).Among the 207 subjects tested, 57 (27.6%) were positive for a diagnostic episignature including 48/136 (35.3%) in the targeted cohort and 8/71 (11.3%) in the screening cohort, with 4/207 (1.9%) remaining inconclusive after EpiSign analysis.This study describes the implementation of diagnostic clinical genomic DNA methylation testing in patients with rare disorders. It provides strong evidence of clinical utility of EpiSign analysis, including the ability to provide conclusive findings in the majority of subjects tested." @default.
• W3128433086 created "2021-02-15" @default.
• W3128433086 creator A5003422914 @default.
• W3128433086 creator A5003902944 @default.
• W3128433086 creator A5024042256 @default.
• W3128433086 creator A5030150493 @default.
• W3128433086 creator A5030381814 @default.
• W3128433086 creator A5031513028 @default.
• W3128433086 creator A5033087411 @default.
• W3128433086 creator A5033303231 @default.
• W3128433086 creator A5033682081 @default.
• W3128433086 creator A5035565981 @default.
• W3128433086 creator A5046552529 @default.
• W3128433086 creator A5047297344 @default.
• W3128433086 creator A5047369065 @default.
• W3128433086 creator A5048794148 @default.
• W3128433086 creator A5049013935 @default.
• W3128433086 creator A5049921373 @default.
• W3128433086 creator A5050097716 @default.
• W3128433086 creator A5052955146 @default.
• W3128433086 creator A5056984117 @default.
• W3128433086 creator A5062707328 @default.
• W3128433086 creator A5063114067 @default.
• W3128433086 creator A5070770682 @default.
• W3128433086 creator A5072815495 @default.
• W3128433086 creator A5074581885 @default.
• W3128433086 creator A5077992370 @default.
• W3128433086 creator A5089328032 @default.
• W3128433086 date "2021-06-01" @default.
• W3128433086 modified "2023-10-12" @default.
• W3128433086 title "Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders" @default.
• W3128433086 cites W1557675999 @default.
• W3128433086 cites W1638606089 @default.
• W3128433086 cites W1974047233 @default.
• W3128433086 cites W1997866877 @default.
• W3128433086 cites W2003063028 @default.
• W3128433086 cites W2010043305 @default.
• W3128433086 cites W2041674913 @default.
• W3128433086 cites W2051978340 @default.
• W3128433086 cites W2077359776 @default.
• W3128433086 cites W2096252283 @default.
• W3128433086 cites W2096892933 @default.
• W3128433086 cites W2131587128 @default.
• W3128433086 cites W2267376195 @default.
• W3128433086 cites W2288797872 @default.
• W3128433086 cites W2292179832 @default.
• W3128433086 cites W2511772973 @default.
• W3128433086 cites W2515141406 @default.
• W3128433086 cites W2560391173 @default.
• W3128433086 cites W2610666651 @default.
• W3128433086 cites W2743664205 @default.
• W3128433086 cites W2775627082 @default.
• W3128433086 cites W2782149093 @default.
• W3128433086 cites W2788468983 @default.
• W3128433086 cites W2803978842 @default.
• W3128433086 cites W2900595482 @default.
• W3128433086 cites W2920856340 @default.
• W3128433086 cites W2933584816 @default.
• W3128433086 cites W2947363345 @default.
• W3128433086 cites W2953369183 @default.
• W3128433086 cites W2954271449 @default.
• W3128433086 cites W2963720980 @default.
• W3128433086 cites W2973267506 @default.
• W3128433086 cites W2986189881 @default.
• W3128433086 cites W2998743225 @default.
• W3128433086 cites W3008931239 @default.
• W3128433086 cites W3015161980 @default.
• W3128433086 cites W3041568409 @default.
• W3128433086 cites W3045264265 @default.
• W3128433086 doi "https://doi.org/10.1038/s41436-020-01096-4" @default.
• W3128433086 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8187150" @default.
• W3128433086 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33547396" @default.
• W3128433086 hasPublicationYear "2021" @default.
• W3128433086 type Work @default.
• W3128433086 sameAs 3128433086 @default.
• W3128433086 citedByCount "66" @default.
• W3128433086 countsByYear W31284330862021 @default.
• W3128433086 countsByYear W31284330862022 @default.
• W3128433086 countsByYear W31284330862023 @default.
• W3128433086 crossrefType "journal-article" @default.
• W3128433086 hasAuthorship W3128433086A5003422914 @default.
• W3128433086 hasAuthorship W3128433086A5003902944 @default.
• W3128433086 hasAuthorship W3128433086A5024042256 @default.
• W3128433086 hasAuthorship W3128433086A5030150493 @default.
• W3128433086 hasAuthorship W3128433086A5030381814 @default.
• W3128433086 hasAuthorship W3128433086A5031513028 @default.
• W3128433086 hasAuthorship W3128433086A5033087411 @default.
• W3128433086 hasAuthorship W3128433086A5033303231 @default.
• W3128433086 hasAuthorship W3128433086A5033682081 @default.
• W3128433086 hasAuthorship W3128433086A5035565981 @default.
• W3128433086 hasAuthorship W3128433086A5046552529 @default.
• W3128433086 hasAuthorship W3128433086A5047297344 @default.
• W3128433086 hasAuthorship W3128433086A5047369065 @default.
• W3128433086 hasAuthorship W3128433086A5048794148 @default.
• W3128433086 hasAuthorship W3128433086A5049013935 @default.
• W3128433086 hasAuthorship W3128433086A5049921373 @default.
• W3128433086 hasAuthorship W3128433086A5050097716 @default.
• W3128433086 hasAuthorship W3128433086A5052955146 @default.

• next