Mutational Profiling of Myeloid Malignancies

The mutational profile of 32 recurrently mutated genes in myeloid
malignancies was determined using an Illumina TruSeq Custom Amplicon
next-generation sequencing gene panel (Supplementary Table 2) and the TruSeq Amplicon 2.0
BaseSpace app workflow 51 (link) (Illumina, San
Diego, CA, USA). 31 inositide-specific point mutations and small indels (Supplementary Table 3)
were examined using the Ion Torrent S5 with an Ion AmpliSeq™ On-demand
Panel (Thermo Fisher Scientific,Whaltam, MA, USA). Sequencing alignment was
viewed by the Integrative Genomics Viewer Software (Broad Institute, Cambridge,
MA, USA) using the Human Genome Build 19 (Hg19) as the reference 52 (link). Further details can be found in the
Supplementary
Information.

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Follo M.Y., Pellagatti A., Armstrong R.N., Ratti S., Mongiorgi S., De Fanti S., Bochicchio M.T., Russo D., Gobbi M., Miglino M., Parisi S., Martinelli G., Cavo M., Luiselli D., McCubrey J.A., Suh P.G., Manzoli L., Boultwood J., Finelli C, & Cocco L. (2019). Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes. Leukemia, 33(9), 2276-2290.

Publication 2019

TruSeq Custom Ampliconnext-generation sequencing gene panel TruSeq Amplicon 2.0BaseSpace app workflow Ion Torrent S5

Gene Genes profile Human genome Indels Mutational Point mutations Sequencing alignment

Corresponding Organization : University of Bologna

Other organizations : Oxford BioMedica (United Kingdom), Blood Cancer UK, University of Oxford, University of Brescia, University of Genoa, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, Istituti di Ricovero e Cura a Carattere Scientifico, East Carolina University, Ulsan National Institute of Science and Technology

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Variable analysis

independent variables

Illumina TruSeq Custom Amplicon next-generation sequencing gene panel
Ion Torrent S5 with an Ion AmpliSeq™ On-demand Panel

dependent variables

Mutational profile of 32 recurrently mutated genes in myeloid malignancies
31 inositide-specific point mutations and small indels

control variables

Human Genome Build 19 (Hg19) as the reference

controls

Positive control: Not explicitly mentioned
Negative control: Not explicitly mentioned

Annotations

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