Publications / References
Sequencing depth in WGS analysis
Comment on: Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers (Duncavage et al. N Engl J Med 2021;384:924-935). Haferlach T et al. N Engl J Med. 2021 Jun 24;384(25):e106.
Analytical demands to use WGS
Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology. Meggendorfer M et al. Semin Cancer Biol. 2021 Jun 10;S1044-579X(21)00179-6. Online ahead of print.
Clinical utility of WGS
Clinical utility of whole-genome sequencing in precision oncology. Rosenquist R et al. Semin Cancer Biol. 2021 Jun 24;S1044-579X(21)00189-9. Online ahead of print.
Genomic Features in MDS
Classification and Personalized Prognostic Assessment on the Basis of Clinical and Genomic Features in Myelodysplastic Syndromes. Bersanelli M et al. J Clin Oncol. 2021 Feb 4;JCO2001659. Online ahead of print.
Novel fusions in AML and MDS
Whole transcriptome sequencing detects a large number of novel fusion transcripts in patients with AML and MDS. Stengel et al. Blood Adv. 2020 Nov 10;4(21):5393-5401.
Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available technologies. Walter et al. Semin Cancer Biol. 2020 Nov 7;S1044-579X(20)30220-0. Online ahead of print.
Molecular landscape of MDS/MPN
Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms. Palomo L et al. Blood. 2020 Oct 15;136(16):1851-1862.
WGS and WTS a new tool?
WGS and WTS in leukaemia: A tool for diagnostics? Meggendorfer M et al. Best Pract Res Clin Haematol. 2020 Sep;33(3):101190.
Complex landscape of alternative splicing in myeloid neoplasms. Hershberger CE et al. Leukemia. 2020 Aug 4. Online ahead of print.
Superior to conventional diagnostic tests
The combination of WGS and RNA-Seq is superior to conventional diagnostic tests in multiple myeloma: Ready for prime time? Höllein A et al. Cancer Genet. 2020 Apr;242:15-24.
Clonal haematopoiesis in cardiology
Clonal haematopoiesis in patients with degenerative aortic valve stenosis undergoing transcatheter aortic valve implantation. Mas-Peiro S et al. Eur Heart J. 2020 Feb 21;41(8):933-939.
Genomic subtyping and therapeutic targeting of acute erythroleukemia. Iacobucci I et al. Nat Genet. 2019 Apr;51(4):694-704.
Large-scale sequencing experience from the MLL 5K project. Walter W
Genomic & Transcriptomic Data Visualization. Walter W
Analysis of pharmacogenomic variants by WGS data for AML patients with altered response to treatment. Walter W
An in silico Pathogenicity Predictor
A Novel Machine Learning Based in silico Pathogenicity Predictor for Missense Variants in a Hematological Setting. Hutter et al. Blood (2019) 134 (Supplement_1): 2090.