Clinical Genomics Uppsala

SciLifeLab Infrastructure Unit Since 2014.

Started: 2014

Ended: Current

69 publications

Year 2020

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, ..., Ding L, PCAWG Consortium
Nat Commun 11 (1) 4748 [2020-09-21; online 2020-09-21]
Clinical Genomics Uppsala [Service]
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, ..., Boutros PC, PCAWG Consortium
Nat Commun 11 (1) 4330 [2020-08-28; online 2020-08-28]
Clinical Genomics Uppsala [Service]
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.
Malcovati L, Stevenson K, Papaemmanuil E, ..., Hellstrom-Lindberg E, Cazzola M
Blood 136 (2) 157-170 [2020-07-09; online 2020-04-30]
Clinical Genomics Uppsala [Service]

Year 2019

A clonal expression biomarker associates with lung cancer mortality.
Biswas D, Birkbak NJ, Rosenthal R, ..., Swanton C, TRACERx Consortium
Nat. Med. 25 (10) 1540-1548 [2019-10-00; online 2019-10-07]
Clinical Genomics Uppsala [Collaborative]

Year 2018

appreci8: a pipeline for precise variant calling integrating 8 tools
Sandmann S, Karimi M, de Graaf AO, ..., Jansen JH, Dugas M
- - (-) - [2018-06-26; online 2018-06-26]
Clinical Genomics Uppsala [Service]

Year 2017

RANK rewires energy homeostasis in lung cancer cells and drives primary lung cancer.
Rao S, Sigl V, Wimmer RA, ..., Dougall W, Penninger JM
Genes Dev. 31 (20) 2099-2112 [2017-10-15; online 2017-11-08]
Clinical Genomics Uppsala [Collaborative]
SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells
Mortera-Blanco T, Dimitriou M, Woll PS, ..., Jacobsen SEW, Hellström-Lindberg E
Blood 130 (7) 881-890 [2017-08-17; online 2017-06-20]
Clinical Genomics Uppsala [Service]

Year 2016

Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.
Mansouri L, Noerenberg D, Young E, ..., Rosenquist R, Damm F
Blood 128 (23) 2666-2670 [2016-12-08; online 2016-09-28]
Clinical Genomics Uppsala [Collaborative]
Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond.
Rosenquist R, Rosenwald A, Du MQ, ..., Stamatopoulos K, European Research Initiative on CLL (ERIC) and the European Association for Haematopathology (EAHP)
Haematologica 101 (9) 1002-1009 [2016-09-00; online 2016-09-02]
Clinical Genomics Uppsala [Collaborative]
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, ..., Willcocks JP, Gut IG
N Biotechnol 33 (3) 311-330 [2016-05-25; online 2015-10-26]
Clinical Genomics Uppsala [Collaborative]
Innovation in the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go?
Pospisilova S, Sutton LA, Malcikova J, ..., Ghia P, European Research Initiative on CLL (ERIC)
Haematologica 101 (3) 263-265 [2016-03-00; online 2016-03-02]
Clinical Genomics Uppsala [Service]
The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling.
Raja E, Tzavlaki K, Vuilleumier R, ..., Heldin CH, Moustakas A
Oncotarget 7 (2) 1120-1143 [2016-01-12; online 2015-12-25]
Clinical Genomics Uppsala [Collaborative]

Year 2015

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, ..., Annerén G, Bondeson ML
BMC Med. Genet. 16 (-) 95 [2015-10-14; online 2015-10-14]
Clinical Genomics Uppsala
Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing.
Parry M, Rose-Zerilli MJ, Ljungström V, ..., Oscier D, Strefford JC
Clin. Cancer Res. 21 (18) 4174-4183 [2015-09-15; online 2015-03-18]
Clinical Genomics Uppsala
Comprehensive genomic profiles of small cell lung cancer.
George J, Lim JS, Jang SJ, ..., Sage J, Thomas RK
Nature 524 (7563) 47-53 [2015-08-06; online 2015-07-15]
Clinical Genomics Uppsala [Collaborative]