FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3198204027> ?p ?o ?g. }

• W3198204027 abstract "Abstract Background Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection. Recent developments show RNA sequencing (RNA-seq) is promising for genome-wide detection of fusion products, but hindered by many false positives that require extensive manual curation and impede discovery of pathogenic fusions. Results We developed Fusion-sq to detect tumor-specific gene fusions by integrating and “fusing” evidence from RNA-seq and whole genome sequencing (WGS) using intron-exon gene structure. In a pediatric pan-cancer cohort of 130 patients, we identified 165 high confidence tumor-specific gene fusions and their underlying structural variants (SVs). This includes all clinically relevant fusions known to be present in this cohort (30 patients). Fusion-sq distinguishes healthy-occurring from tumor-specific fusions, and resolves fusions in amplified regions and copy number unstable genomes. A high gene fusion burden is associated with copy number instability. We identified 27 potentially pathogenic fusions involving oncogenes or tumor-suppressor genes characterised by underlying SVs or expression changes indicative of activating or disruptive effects. Conclusions Our results indicate how clinically relevant and potentially pathogenic gene fusions can be identified and their functional effects investigated by combining WGS and RNA-seq. Integrating RNA fusion predictions with underlying SVs advances fusion detection beyond extensive manual filtering. Taken together, we developed a method for identifying candidate fusions that is suitable for precision oncology applications. Our method provides multi-omics evidence for assessing the pathogenicity of tumor-specific fusions for future clinical decision making." @default.
• W3198204027 created "2021-09-13" @default.
• W3198204027 creator A5001761365 @default.
• W3198204027 creator A5014264523 @default.
• W3198204027 creator A5018077513 @default.
• W3198204027 creator A5023307312 @default.
• W3198204027 creator A5028558557 @default.
• W3198204027 creator A5031526655 @default.
• W3198204027 creator A5033987020 @default.
• W3198204027 creator A5039987073 @default.
• W3198204027 creator A5040392709 @default.
• W3198204027 creator A5048421696 @default.
• W3198204027 creator A5050281148 @default.
• W3198204027 creator A5051552423 @default.
• W3198204027 creator A5067922073 @default.
• W3198204027 creator A5071454865 @default.
• W3198204027 creator A5071914676 @default.
• W3198204027 creator A5072171578 @default.
• W3198204027 creator A5073651153 @default.
• W3198204027 creator A5091263391 @default.
• W3198204027 date "2021-09-01" @default.
• W3198204027 modified "2023-10-18" @default.
• W3198204027 title "Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS" @default.
• W3198204027 cites W1934784112 @default.
• W3198204027 cites W1952715049 @default.
• W3198204027 cites W2010256904 @default.
• W3198204027 cites W2030205108 @default.
• W3198204027 cites W2049625449 @default.
• W3198204027 cites W2082534286 @default.
• W3198204027 cites W2088925787 @default.
• W3198204027 cites W2098117487 @default.
• W3198204027 cites W2099517538 @default.
• W3198204027 cites W2107977954 @default.
• W3198204027 cites W2118071133 @default.
• W3198204027 cites W2146005104 @default.
• W3198204027 cites W2156306488 @default.
• W3198204027 cites W2166657289 @default.
• W3198204027 cites W2169438753 @default.
• W3198204027 cites W2235737683 @default.
• W3198204027 cites W2239788015 @default.
• W3198204027 cites W2272111630 @default.
• W3198204027 cites W2292769011 @default.
• W3198204027 cites W2295859676 @default.
• W3198204027 cites W2297190827 @default.
• W3198204027 cites W2416781892 @default.
• W3198204027 cites W2417483443 @default.
• W3198204027 cites W2603589278 @default.
• W3198204027 cites W2607938959 @default.
• W3198204027 cites W2614443510 @default.
• W3198204027 cites W2624201179 @default.
• W3198204027 cites W2733265822 @default.
• W3198204027 cites W2788593837 @default.
• W3198204027 cites W2789869568 @default.
• W3198204027 cites W2796292093 @default.
• W3198204027 cites W2883352264 @default.
• W3198204027 cites W2898643817 @default.
• W3198204027 cites W2898789672 @default.
• W3198204027 cites W2915524647 @default.
• W3198204027 cites W2916892775 @default.
• W3198204027 cites W2947453201 @default.
• W3198204027 cites W2948024819 @default.
• W3198204027 cites W2950993016 @default.
• W3198204027 cites W2951874439 @default.
• W3198204027 cites W2989736137 @default.
• W3198204027 cites W2990323558 @default.
• W3198204027 cites W2990871782 @default.
• W3198204027 cites W2998595859 @default.
• W3198204027 cites W3002469446 @default.
• W3198204027 cites W3004295003 @default.
• W3198204027 cites W3004498009 @default.
• W3198204027 cites W3004584205 @default.
• W3198204027 cites W3005141353 @default.
• W3198204027 cites W3007172120 @default.
• W3198204027 cites W3032034316 @default.
• W3198204027 cites W3032793475 @default.
• W3198204027 cites W3037149809 @default.
• W3198204027 cites W3090838011 @default.
• W3198204027 cites W3097296206 @default.
• W3198204027 cites W3105184084 @default.
• W3198204027 cites W3118862865 @default.
• W3198204027 cites W3158744925 @default.
• W3198204027 doi "https://doi.org/10.1101/2021.08.31.458342" @default.
• W3198204027 hasPublicationYear "2021" @default.
• W3198204027 type Work @default.
• W3198204027 sameAs 3198204027 @default.
• W3198204027 citedByCount "3" @default.
• W3198204027 countsByYear W31982040272022 @default.
• W3198204027 crossrefType "posted-content" @default.
• W3198204027 hasAuthorship W3198204027A5001761365 @default.
• W3198204027 hasAuthorship W3198204027A5014264523 @default.
• W3198204027 hasAuthorship W3198204027A5018077513 @default.
• W3198204027 hasAuthorship W3198204027A5023307312 @default.
• W3198204027 hasAuthorship W3198204027A5028558557 @default.
• W3198204027 hasAuthorship W3198204027A5031526655 @default.
• W3198204027 hasAuthorship W3198204027A5033987020 @default.
• W3198204027 hasAuthorship W3198204027A5039987073 @default.
• W3198204027 hasAuthorship W3198204027A5040392709 @default.
• W3198204027 hasAuthorship W3198204027A5048421696 @default.
• W3198204027 hasAuthorship W3198204027A5050281148 @default.
• W3198204027 hasAuthorship W3198204027A5051552423 @default.

• next