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0247 a https://lup.lub.lu.se/record/68d86b85-4910-4a80-8363-e0eadd2bb3302 URI
0247 a https://doi.org/10.3389/fmed.2022.8425072 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1961792 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1854212 URI
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0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4751232 URI
0247 a https://gup.ub.gu.se/publication/3152122 URI
040 a (SwePub)lud (SwePub)umud (SwePub)liud (SwePub)kid (SwePub)uud (SwePub)gu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Berglund, Eva Carolineu Uppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Molekylär evolution,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)evber498
2451 0a A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias
264 c 2022-03-24
264 1a Lausanne, Switzerland :b Frontiers Media SA,c 2022
500 a On behalf of the Clinical Genomics Platform at SciLifeLab and Genomic Medicine Sweden.Funding: This work was supported by Vinnova, the Swedish Innovation Agency, the Swedish Childhood Cancer Fund, the Swedish Cancer Society, the Swedish Research Council, regional ALF funding from Region Skåne, Region Västra Götaland, Karolinska Institutet, and Karolinska University Hospital. The sequencing of the retrospective cohort was funded by the SciLifeLab National Projects (NP00043).
520 a Background: Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS), with the ability to provide comprehensive genomic information, have become the focal point of research interest as novel techniques that can support precision diagnostics in routine clinical care of patients with various cancer types, including hematological malignancies. This national multi-center study, led by Genomic Medicine Sweden, aims to evaluate whether combined application of WGS and WTS (WGTS) is technically feasible and can be implemented as an efficient diagnostic tool in patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). In addition to clinical impact assessment, a health-economic evaluation of such strategy will be performed. Methods and Analysis: The study comprises four phases (i.e., retrospective, prospective, real-time validation, and follow-up) including approximately 700 adult and pediatric Swedish AML and ALL patients. Results of WGS for tumor (90×) and normal/germline (30×) samples as well as WTS for tumors only will be compared to current standard of care diagnostics. Primary study endpoints are diagnostic efficiency and improved diagnostic yield. Secondary endpoints are technical and clinical feasibility for routine implementation, clinical utility, and health-economic impact. Discussion: Data from this national multi-center study will be used to evaluate clinical performance of the integrated WGTS diagnostic workflow compared with standard of care. The study will also elucidate clinical and health-economic impacts of a combined WGTS strategy when implemented in routine clinical care. Clinical Trial Registration: [https://doi.org/10.1186/ISRCTN66987142], identifier [ISRCTN66987142].
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Hematologi0 (SwePub)302022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Hematology0 (SwePub)302022 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi0 (SwePub)303012 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Health Care Service and Management, Health Policy and Services and Health Economy0 (SwePub)303012 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng
653 a acute lymphoblastic leukemia
653 a acute myeloid leukemia
653 a clinical utility
653 a diagnostic efficiency
653 a health-economic evaluation
653 a technical feasibility
653 a whole-genome sequencing
653 a whole-transcriptome sequencing
653 a acute lymphoblastic leukemia
7001 a Barbany, Giselau Karolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.4 aut
7001 a Orsmark-Pietras, Christinau Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden,Div Lab Med, Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.;Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.;Lund Univ, Sci Life Lab, Clin Genom Lund, Lund, Sweden.4 aut0 (Swepub:lu)med-cio
7001 a Fogelstrand, Linda,d 1974u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xsvlin
7001 a Abrahamsson, Jonas,d 1954u Queen Silvia Children’s Hospital,Clinical Sciences, Queen Silvias Childrens Hospital, Gothenburg, Sweden,Queen Silv Childrens Hosp, Clin Sci, Gothenburg, Sweden.4 aut0 (Swepub:gu)xabrjo
7001 a Golovleva, Irinau Umeå universitet,Umeå University,Medicinsk och klinisk genetik,Univ Umeå, Dept Med Biosci, Umeå, Sweden.4 aut0 (Swepub:umu)irgo0001
7001 a Hallböök, Heleneu Uppsala universitet,Uppsala University,Department of Medical Sciences, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Hematologi4 aut0 (Swepub:uu)helehall
7001 a Lazarevic, Vladimiru Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden,Skane Univ Hosp, Dept Hematol Oncol & Radiat Phys, Lund, Sweden.4 aut0 (Swepub:lu)med-lzv
7001 a Levin, Lars-Åke,c Professor,d 1960-u Linköpings universitet,Linköping University,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden,Avdelningen för samhälle och hälsa,Medicinska fakulteten,Linköping Univ, Dept Hlth Med & Caring Sci, Linköping, Sweden.4 aut0 (Swepub:liu)larle77
7001 a Nordlund, Jessicau Uppsala universitet,Uppsala University,Department of Medical Sciences and Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)jesno775
7001 a Norén-Nyström, Ulrikau Umeå universitet,Umeå University,Pediatrik,Umeå Univ, Dept Clin Sci Pediat, Umeå, Sweden.4 aut0 (Swepub:umu)kagr0007
7001 a Palle, Josefine,d 1964-u Uppsala universitet,Uppsala University,Women’s and Children’s Health, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Institutionen för kvinnors och barns hälsa,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)jopal516
7001 a Thangavelu, Tharshiniu Linköpings universitet,Linköping University,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden,Avdelningen för samhälle och hälsa,Medicinska fakulteten,Linköping Univ, Dept Hlth Med & Caring Sci, Linköping, Sweden.4 aut0 (Swepub:liu)thath65
7001 a Palmqvist, Lars,d 1965u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xpalla
7001 a Wirta, Valtteriu Karolinska Institutet,Karolinska Institute,Department of Microbiology, Tumor and Cell Biology, Clinical Genomics Stockholm, Science for Life Laboratory, Karolinska Institutet, Solna, Sweden,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Clin Genom Stockholm, Solna, Sweden.4 aut
7001 a Cavelier, Luciau Uppsala universitet,Uppsala University,Department of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik4 aut0 (Swepub:uu)lucicava
7001 a Fioretos, Thoasu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Department of Clinical Genetics and Pathology, Office for Medical Services, Division of Laboratory Medicine, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; Clinical Genomics Lund, Science for Life Laboratory, Lund University, Lund, Sweden,Div Lab Med, Off Med Serv, Dept Clin Genet & Pathol, Lund, Sweden.;Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden.;Lund Univ, Sci Life Lab, Clin Genom Lund, Lund, Sweden.4 aut0 (Swepub:lu)kgen-tfi
7001 a Rosenquist, Richardu Karolinska Institutet,Karolinska Institute,Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Clinical Genetics, Karolinska University Hospital, Solna, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Clin Genet, Solna, Sweden.4 aut
7001 a Höglund, Martinu Uppsala universitet,Hematologi4 aut0 (Swepub:uu)martinhl
7102 a Uppsala Universityb Department of Immunology, Genetics and Pathology, Clinical Genomics Uppsala, Science for Life Laboratory, Uppsala University, Uppsala, Sweden4 org
7102 a the Clinical Genomics Platform at SciLifeLab
7102 a Genomic Medicine Sweden
7730 t Frontiers in Medicined Lausanne, Switzerland : Frontiers Media SAg 9, s. 1-9q 9<1-9x 2296-858X
8564 u http://dx.doi.org/10.3389/fmed.2022.842507x freey FULLTEXT
8564 u https://doi.org/10.3389/fmed.2022.842507y Fulltext
8564 u https://umu.diva-portal.org/smash/get/diva2:1668547/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://liu.diva-portal.org/smash/get/diva2:1663911/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://uu.diva-portal.org/smash/get/diva2:1662226/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://lup.lub.lu.se/record/68d86b85-4910-4a80-8363-e0eadd2bb330
8564 8u https://doi.org/10.3389/fmed.2022.842507
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-196179
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-185421
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:149588943
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-475123
8564 8u https://gup.ub.gu.se/publication/315212

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