Search: onr:"swepub:oai:lup.lub.lu.se:0a757bc7-434c-4f8c-a451-0d486b06bcaa" > Working toward prec...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 05476naa a2200973 4500 | |
001 | oai:lup.lub.lu.se:0a757bc7-434c-4f8c-a451-0d486b06bcaa | |
003 | SwePub | |
008 | 170818s2017 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/0a757bc7-434c-4f8c-a451-0d486b06bcaa2 URI |
024 | 7 | a https://doi.org/10.1002/humu.232802 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Daneshjou, Roxanau Stanford University4 aut |
245 | 1 0 | a Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges |
264 | c 2017-07-07 | |
264 | 1 | b Hindawi Limited,c 2017 |
520 | a Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing. Previous CAGI challenges included prior versions of the Crohn's disease challenge. Here, we discuss the range of techniques used for phenotype prediction as well as the methods used for assessing predictive models. Additionally, we outline some of the difficulties associated with making predictions and evaluating them. The lessons learned from the exome challenges can be applied to both research and clinical efforts to improve phenotype prediction from genotype. In addition, these challenges serve as a vehicle for sharing clinical and research exome data in a secure manner with scientists who have a broad range of expertise, contributing to a collaborative effort to advance our understanding of genotype-phenotype relationships. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Annan medicin och hälsovetenskapx Övrig annan medicin och hälsovetenskap0 (SwePub)305992 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Other Medical and Health Sciencesx Other Medical and Health Sciences not elsewhere specified0 (SwePub)305992 hsv//eng |
653 | a Bipolar disorder | |
653 | a Crohn's disease | |
653 | a Exomes | |
653 | a Machine learning | |
653 | a Phenotype prediction | |
653 | a Warfarin | |
700 | 1 | a Wang, Yanranu Rutgers University: The State University of New Jersey4 aut |
700 | 1 | a Bromberg, Yanau Rutgers University: The State University of New Jersey4 aut |
700 | 1 | a Bovo, Samueleu University of Bologna4 aut |
700 | 1 | a Martelli, Pier Luigiu University of Bologna4 aut |
700 | 1 | a Babbi, Giuliau University of Bologna4 aut |
700 | 1 | a Lena, Pietro Diu University of Bologna4 aut |
700 | 1 | a Casadio, Ritau University of Bologna4 aut |
700 | 1 | a Edwards, Matthewu Massachusetts Institute of Technology4 aut |
700 | 1 | a Gifford, Davidu Massachusetts Institute of Technology4 aut |
700 | 1 | a Jones, David T W4 aut |
700 | 1 | a Sundaram, Laksshman4 aut |
700 | 1 | a Bhat, Rajendra4 aut |
700 | 1 | a Li, Xiaolin4 aut |
700 | 1 | a Pal, Lipika R.4 aut |
700 | 1 | a Kundu, Kunal4 aut |
700 | 1 | a Yin, Yizhou4 aut |
700 | 1 | a Moult, John4 aut |
700 | 1 | a Jiang, Yuxiang4 aut |
700 | 1 | a Pejaver, Vikas R.4 aut |
700 | 1 | a Pagel, Kymberleigh A.4 aut |
700 | 1 | a Li, Biao4 aut |
700 | 1 | a Mooney, Sean D.4 aut |
700 | 1 | a Radivojac, Predrag4 aut |
700 | 1 | a Shah, Sohela4 aut |
700 | 1 | a Carraro, Marco4 aut |
700 | 1 | a Gasparini, Alessandra4 aut |
700 | 1 | a Leonardi, Emanuela4 aut |
700 | 1 | a Giollo, Manuel4 aut |
700 | 1 | a Ferrari, Carlo4 aut |
700 | 1 | a Tosatto, Silvio C.E.4 aut |
700 | 1 | a Bachar, Eran4 aut |
700 | 1 | a Azaria, Johnathan R.4 aut |
700 | 1 | a Ofran, Yanay4 aut |
700 | 1 | a Unger, Ron4 aut |
700 | 1 | a Niroula, Abhisheku Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Hematogenomics,Protein Bioinformatics,Lund University Research Groups4 aut0 (Swepub:lu)med-anu |
700 | 1 | a Vihinen, Maunou Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups4 aut0 (Swepub:lu)med-mnv |
700 | 1 | a Chang, Billy4 aut |
700 | 1 | a Wang, Maggie H.4 aut |
700 | 1 | a Franke, Andre4 aut |
700 | 1 | a Petersen, Britt Sabina4 aut |
700 | 1 | a Pirooznia, Mehdi4 aut |
700 | 1 | a Zandi, Peter4 aut |
700 | 1 | a Mccombie, Richard4 aut |
700 | 1 | a Potash, James B.4 aut |
700 | 1 | a Altman, Russ B.4 aut |
700 | 1 | a Klein, Teri E.4 aut |
700 | 1 | a Hoskins, Roger A.4 aut |
700 | 1 | a Repo, Susanna4 aut |
700 | 1 | a Brenner, Steven E4 aut |
700 | 1 | a Morgan, Alexander A.u Stanford University4 aut |
710 | 2 | a Stanford Universityb Rutgers University: The State University of New Jersey4 org |
773 | 0 | t Human Mutationd : Hindawi Limitedg 38:9, s. 1182-1192q 38:9<1182-1192x 1059-7794x 1098-1004 |
856 | 4 | u http://dx.doi.org/10.1002/humu.23280y FULLTEXT |
856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.23280 |
856 | 4 8 | u https://lup.lub.lu.se/record/0a757bc7-434c-4f8c-a451-0d486b06bcaa |
856 | 4 8 | u https://doi.org/10.1002/humu.23280 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Copy and save the link in order to return to this view