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Comprehensive Genetic Profiling Protocol

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Genetic profiling included cytogenetic analyses and sequencing of 111 genes (Table S2 in the Supplementary Appendix). Sequencing data have been deposited in the European Genome-Phenome Archive (www.ebi.ac.uk/ega) under accession number EGAS00001000275. We based our analysis on variants that we classified as driver mutations, using widely accepted genetic criteria.12 (link) Recurrent fusion genes, aneuploidies, and leukemia gene mutations, including base substitutions and small (<200-bp) insertions or deletions (indels), were all included as drivers.

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Papaemmanuil E., Gerstung M., Bullinger L., Gaidzik V.I., Paschka P., Roberts N.D., Potter N.E., Heuser M., Thol F., Bolli N., Gundem G., Van Loo P., Martincorena I., Ganly P., Mudie L., McLaren S., O’Meara S., Raine K., Jones D.R., Teague J.W., Butler A.P., Greaves M.F., Ganser A., Döhner K., Schlenk R.F., Döhner H, & Campbell P.J. (2016). Genomic Classification and Prognosis in Acute Myeloid Leukemia. The New England journal of medicine, 374(23), 2209-2221.

Publication 2016

Aneuploidies Cytogenetic analyses Deletions European Gene mutations Genes Genetic Genome Indels Insertions Leukemia

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Protocol cited in 34 other protocols

Variable analysis

independent variables

Genetic profiling, including cytogenetic analyses and sequencing of 111 genes

dependent variables

Variants classified as driver mutations

control variables

Widely accepted genetic criteria for classifying driver mutations

controls

No positive or negative controls were explicitly mentioned in the input text.

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