FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2605451372> ?p ?o ?g. }

• W2605451372 endingPage "1168" @default.
• W2605451372 startingPage "1155" @default.
• W2605451372 abstract "The CAGI-4 Hopkins clinical panel challenge was an attempt to assess state-of-the-art methods for clinical phenotype prediction from DNA sequence. Participants were provided with exonic sequences of 83 genes for 106 patients from the Johns Hopkins DNA Diagnostic Laboratory. Five groups participated in the challenge, predicting both the probability that each patient had each of the 14 possible classes of disease, as well as one or more causal variants. In cases where the Hopkins laboratory reported a variant, at least one predictor correctly identified the disease class in 36 of the 43 patients (84%). Even in cases where the Hopkins laboratory did not find a variant, at least one predictor correctly identified the class in 39 of the 63 patients (62%). Each prediction group correctly diagnosed at least one patient that was not successfully diagnosed by any other group. We discuss the causal variant predictions by different groups and their implications for further development of methods to assess variants of unknown significance. Our results suggest that clinically relevant variants may be missed when physicians order small panels targeted on a specific phenotype. We also quantify the false-positive rate of DNA-guided analysis in the absence of prior phenotypic indication." @default.
• W2605451372 created "2017-04-28" @default.
• W2605451372 creator A5002167607 @default.
• W2605451372 creator A5007627874 @default.
• W2605451372 creator A5010900550 @default.
• W2605451372 creator A5013006329 @default.
• W2605451372 creator A5013854812 @default.
• W2605451372 creator A5015505110 @default.
• W2605451372 creator A5022015561 @default.
• W2605451372 creator A5030997708 @default.
• W2605451372 creator A5037220802 @default.
• W2605451372 creator A5051339111 @default.
• W2605451372 creator A5058892069 @default.
• W2605451372 creator A5064430125 @default.
• W2605451372 creator A5066560665 @default.
• W2605451372 creator A5066829790 @default.
• W2605451372 creator A5068462201 @default.
• W2605451372 creator A5068654082 @default.
• W2605451372 creator A5070924714 @default.
• W2605451372 creator A5071766041 @default.
• W2605451372 creator A5076646445 @default.
• W2605451372 creator A5089259470 @default.
• W2605451372 date "2017-06-12" @default.
• W2605451372 modified "2023-10-17" @default.
• W2605451372 title "Lessons from the CAGI‐4 Hopkins clinical panel challenge" @default.
• W2605451372 cites W1563940013 @default.
• W2605451372 cites W1980740976 @default.
• W2605451372 cites W1984068087 @default.
• W2605451372 cites W2010595044 @default.
• W2605451372 cites W2051978340 @default.
• W2605451372 cites W2087689337 @default.
• W2605451372 cites W2096791516 @default.
• W2605451372 cites W2104570606 @default.
• W2605451372 cites W2119412782 @default.
• W2605451372 cites W2123340910 @default.
• W2605451372 cites W2132870739 @default.
• W2605451372 cites W2136941319 @default.
• W2605451372 cites W2143238378 @default.
• W2605451372 cites W2159997698 @default.
• W2605451372 cites W2160995259 @default.
• W2605451372 cites W2171777347 @default.
• W2605451372 cites W2174602966 @default.
• W2605451372 cites W2177197540 @default.
• W2605451372 cites W2256016639 @default.
• W2605451372 cites W2320983896 @default.
• W2605451372 cites W2336359132 @default.
• W2605451372 cites W2356454710 @default.
• W2605451372 cites W2475102260 @default.
• W2605451372 cites W2516720184 @default.
• W2605451372 cites W2517515998 @default.
• W2605451372 cites W2518965474 @default.
• W2605451372 cites W2545239263 @default.
• W2605451372 cites W2582671459 @default.
• W2605451372 cites W4232013694 @default.
• W2605451372 doi "https://doi.org/10.1002/humu.23225" @default.
• W2605451372 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5600166" @default.
• W2605451372 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28397312" @default.
• W2605451372 hasPublicationYear "2017" @default.
• W2605451372 type Work @default.
• W2605451372 sameAs 2605451372 @default.
• W2605451372 citedByCount "5" @default.
• W2605451372 countsByYear W26054513722017 @default.
• W2605451372 countsByYear W26054513722019 @default.
• W2605451372 countsByYear W26054513722021 @default.
• W2605451372 countsByYear W26054513722022 @default.
• W2605451372 countsByYear W26054513722023 @default.
• W2605451372 crossrefType "journal-article" @default.
• W2605451372 hasAuthorship W2605451372A5002167607 @default.
• W2605451372 hasAuthorship W2605451372A5007627874 @default.
• W2605451372 hasAuthorship W2605451372A5010900550 @default.
• W2605451372 hasAuthorship W2605451372A5013006329 @default.
• W2605451372 hasAuthorship W2605451372A5013854812 @default.
• W2605451372 hasAuthorship W2605451372A5015505110 @default.
• W2605451372 hasAuthorship W2605451372A5022015561 @default.
• W2605451372 hasAuthorship W2605451372A5030997708 @default.
• W2605451372 hasAuthorship W2605451372A5037220802 @default.
• W2605451372 hasAuthorship W2605451372A5051339111 @default.
• W2605451372 hasAuthorship W2605451372A5058892069 @default.
• W2605451372 hasAuthorship W2605451372A5064430125 @default.
• W2605451372 hasAuthorship W2605451372A5066560665 @default.
• W2605451372 hasAuthorship W2605451372A5066829790 @default.
• W2605451372 hasAuthorship W2605451372A5068462201 @default.
• W2605451372 hasAuthorship W2605451372A5068654082 @default.
• W2605451372 hasAuthorship W2605451372A5070924714 @default.
• W2605451372 hasAuthorship W2605451372A5071766041 @default.
• W2605451372 hasAuthorship W2605451372A5076646445 @default.
• W2605451372 hasAuthorship W2605451372A5089259470 @default.
• W2605451372 hasBestOaLocation W26054513721 @default.
• W2605451372 hasConcept C104317684 @default.
• W2605451372 hasConcept C126322002 @default.
• W2605451372 hasConcept C127716648 @default.
• W2605451372 hasConcept C2779134260 @default.
• W2605451372 hasConcept C3020646490 @default.
• W2605451372 hasConcept C51679486 @default.
• W2605451372 hasConcept C54355233 @default.
• W2605451372 hasConcept C60644358 @default.
• W2605451372 hasConcept C63363279 @default.
• W2605451372 hasConcept C71924100 @default.

• next