FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2992091241> ?p ?o ?g. }

• W2992091241 abstract "Abstract Prediction methods have become an integral part of biomedical and biotechnological research. However, their clinical interpretations are largely based on biochemical or molecular data, but not clinical data. Here, we focus on improving the reliability and clinical applicability of prediction algorithms. We assembled and curated two large non-overlapping large databases of clinical phenotypes. These phenotypes were caused by missense variations in 44 and 63 genes associated with Mendelian diseases. We used these databases to establish and validate the model, allowing us to improve the predictions obtained from EVmutation, SNAP2 and PoPMuSiC 2.1. The predictions of clinical effects suffered from a lack of specificity, which appears to be the common constraint of all recently used prediction methods, although predictions mediated by these methods are associated with nearly absolute sensitivity. We introduced evidence-based tailoring of the default settings of the prediction methods; this tailoring substantially improved the prediction outcomes. Additionally, the comparisons of the clinically observed and theoretical variations led to the identification of large previously unreported pools of variations that were under negative selection during molecular evolution. The evolutionary variation analysis approach described here is the first to enable the highly specific identification of likely disease-causing missense variations that have not yet been associated with any clinical phenotype." @default.
• W2992091241 created "2019-12-13" @default.
• W2992091241 creator A5003574703 @default.
• W2992091241 creator A5047225751 @default.
• W2992091241 date "2019-12-09" @default.
• W2992091241 modified "2023-10-14" @default.
• W2992091241 title "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases" @default.
• W2992091241 cites W1505191356 @default.
• W2992091241 cites W1683278196 @default.
• W2992091241 cites W1910932409 @default.
• W2992091241 cites W1948594484 @default.
• W2992091241 cites W1964298625 @default.
• W2992091241 cites W1965540415 @default.
• W2992091241 cites W1966549958 @default.
• W2992091241 cites W1973457785 @default.
• W2992091241 cites W1982186905 @default.
• W2992091241 cites W1986559373 @default.
• W2992091241 cites W1987754412 @default.
• W2992091241 cites W1997650783 @default.
• W2992091241 cites W1998002365 @default.
• W2992091241 cites W2008478858 @default.
• W2992091241 cites W2011582941 @default.
• W2992091241 cites W2016185554 @default.
• W2992091241 cites W2017653822 @default.
• W2992091241 cites W2018746750 @default.
• W2992091241 cites W2025039740 @default.
• W2992091241 cites W2029454350 @default.
• W2992091241 cites W2030146176 @default.
• W2992091241 cites W2031553026 @default.
• W2992091241 cites W2039878336 @default.
• W2992091241 cites W2045791858 @default.
• W2992091241 cites W2049089284 @default.
• W2992091241 cites W2049606122 @default.
• W2992091241 cites W2049749222 @default.
• W2992091241 cites W2050700305 @default.
• W2992091241 cites W2051978340 @default.
• W2992091241 cites W2053826408 @default.
• W2992091241 cites W2057048484 @default.
• W2992091241 cites W2060588922 @default.
• W2992091241 cites W2061596350 @default.
• W2992091241 cites W2063769684 @default.
• W2992091241 cites W2069197202 @default.
• W2992091241 cites W2072408001 @default.
• W2992091241 cites W2074830661 @default.
• W2992091241 cites W2081694722 @default.
• W2992091241 cites W2081908789 @default.
• W2992091241 cites W2083191413 @default.
• W2992091241 cites W2084440639 @default.
• W2992091241 cites W2091583677 @default.
• W2992091241 cites W2091764031 @default.
• W2992091241 cites W2092189458 @default.
• W2992091241 cites W2092800497 @default.
• W2992091241 cites W2096791516 @default.
• W2992091241 cites W2098174002 @default.
• W2992091241 cites W2100929998 @default.
• W2992091241 cites W2104008606 @default.
• W2992091241 cites W2106890006 @default.
• W2992091241 cites W2115595474 @default.
• W2992091241 cites W2124243365 @default.
• W2992091241 cites W2125356853 @default.
• W2992091241 cites W2126643167 @default.
• W2992091241 cites W2129317874 @default.
• W2992091241 cites W2134799344 @default.
• W2992091241 cites W2146975462 @default.
• W2992091241 cites W2151347425 @default.
• W2992091241 cites W2160578982 @default.
• W2992091241 cites W2160995259 @default.
• W2992091241 cites W2186602528 @default.
• W2992091241 cites W2195303995 @default.
• W2992091241 cites W2234178373 @default.
• W2992091241 cites W2245592118 @default.
• W2992091241 cites W2259375290 @default.
• W2992091241 cites W2272951769 @default.
• W2992091241 cites W2279984879 @default.
• W2992091241 cites W2285584854 @default.
• W2992091241 cites W2293392103 @default.
• W2992091241 cites W2331911623 @default.
• W2992091241 cites W2346043562 @default.
• W2992091241 cites W2403357649 @default.
• W2992091241 cites W2406197031 @default.
• W2992091241 cites W2464806709 @default.
• W2992091241 cites W2465029969 @default.
• W2992091241 cites W2466594255 @default.
• W2992091241 cites W2517515998 @default.
• W2992091241 cites W2521967673 @default.
• W2992091241 cites W2557229948 @default.
• W2992091241 cites W2560641002 @default.
• W2992091241 cites W2595351638 @default.
• W2992091241 cites W2612091911 @default.
• W2992091241 cites W2750148742 @default.
• W2992091241 cites W2765416676 @default.
• W2992091241 cites W2791466251 @default.
• W2992091241 cites W2952766192 @default.
• W2992091241 cites W4255063861 @default.
• W2992091241 doi "https://doi.org/10.1038/s41598-019-54976-4" @default.
• W2992091241 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6901466" @default.
• W2992091241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31819097" @default.
• W2992091241 hasPublicationYear "2019" @default.
• W2992091241 type Work @default.
• W2992091241 sameAs 2992091241 @default.

• next