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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03471naa a2200721 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:143356701 | |
| 003 | SwePub | |
| 008 | 240902s2020 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1433567012 URI |
| 024 | 7 | a https://doi.org/10.1038/s41588-020-0603-82 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Wagner, AH4 aut |
| 245 | 1 0 | a A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer |
| 264 | c 2020-04-03 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2020 |
| 520 | a Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting primary literature, impeding consensus when evaluating variants and their relevance in a clinical setting. We developed a framework for harmonizing variant interpretations to produce a meta-knowledgebase of 12,856 aggregate interpretations. We demonstrated large gains in overlap between resources across variants, diseases and drugs as a result of this harmonization. We subsequently demonstrated improved matching between a patient cohort and harmonized interpretations of potential clinical significance, observing an increase from an average of 33% per individual knowledgebase to 57% in aggregate. Our analyses illuminate the need for open, interoperable sharing of variant interpretation data. We also provide a freely available web interface (search.cancervariants.org) for exploring the harmonized interpretations from these six knowledgebases. | |
| 700 | 1 | a Walsh, B4 aut |
| 700 | 1 | a Mayfield, G4 aut |
| 700 | 1 | a Tamborero, Du Karolinska Institutet4 aut |
| 700 | 1 | a Sonkin, D4 aut |
| 700 | 1 | a Krysiak, K4 aut |
| 700 | 1 | a Deu-Pons, J4 aut |
| 700 | 1 | a Duren, RP4 aut |
| 700 | 1 | a Gao, JJ4 aut |
| 700 | 1 | a McMurry, J4 aut |
| 700 | 1 | a Patterson, S4 aut |
| 700 | 1 | a Fitz, CD4 aut |
| 700 | 1 | a Pitel, BA4 aut |
| 700 | 1 | a Sezerman, OU4 aut |
| 700 | 1 | a Ellrott, K4 aut |
| 700 | 1 | a Warner, JL4 aut |
| 700 | 1 | a Rieke, DT4 aut |
| 700 | 1 | a Aittokallio, T4 aut |
| 700 | 1 | a Cerami, E4 aut |
| 700 | 1 | a Ritter, DI4 aut |
| 700 | 1 | a Schriml, LM4 aut |
| 700 | 1 | a Freimuth, RR4 aut |
| 700 | 1 | a Haendel, M4 aut |
| 700 | 1 | a Raca, G4 aut |
| 700 | 1 | a Madhavan, S4 aut |
| 700 | 1 | a Baudis, M4 aut |
| 700 | 1 | a Beckmann, JS4 aut |
| 700 | 1 | a Dienstmann, R4 aut |
| 700 | 1 | a Chakravarty, D4 aut |
| 700 | 1 | a Li, XS4 aut |
| 700 | 1 | a Mockus, S4 aut |
| 700 | 1 | a Elemento, O4 aut |
| 700 | 1 | a Schultz, N4 aut |
| 700 | 1 | a Lopez-Bigas, N4 aut |
| 700 | 1 | a Lawler, M4 aut |
| 700 | 1 | a Goecks, J4 aut |
| 700 | 1 | a Griffith, M4 aut |
| 700 | 1 | a Griffith, OL4 aut |
| 700 | 1 | a Margolin, AA4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 52:4, s. 448-+q 52:4<448-+x 1546-1718x 1061-4036 |
| 856 | 4 | u https://www.nature.com/articles/s41588-020-0603-8.pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:143356701 |
| 856 | 4 8 | u https://doi.org/10.1038/s41588-020-0603-8 |
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- Wagner, AH
- Walsh, B
- Mayfield, G
- Tamborero, D
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- Krysiak, K
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- Deu-Pons, J
- Duren, RP
- Gao, JJ
- McMurry, J
- Patterson, S
- Fitz, CD
- Pitel, BA
- Sezerman, OU
- Ellrott, K
- Warner, JL
- Rieke, DT
- Aittokallio, T
- Cerami, E
- Ritter, DI
- Schriml, LM
- Freimuth, RR
- Haendel, M
- Raca, G
- Madhavan, S
- Baudis, M
- Beckmann, JS
- Dienstmann, R
- Chakravarty, D
- Li, XS
- Mockus, S
- Elemento, O
- Schultz, N
- Lopez-Bigas, N
- Lawler, M
- Goecks, J
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- Griffith, OL
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