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NGS analysis

NM Nabih Maslah
EV Emmanuelle Verger
SG Stéphane Giraudier
MC Mathias Chea
RH Ronald Hoffman
JM John Mascarenhas
BC Bruno Cassinat
JK Jean-Jacques Kiladjian
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We used a capture-based custom NGS panel (Sophia Genetics) targeting 36 myeloid genes (ABL1; ASXL1; BRAF; CALR; CBL; CCND2; CEBPA; CSF3R; CUX1; DNMT3A; ETNK1; ETV6; EZH2; FLT3; HRAS; IDH1; IDH2; IKZF1; JAK2; KIT; KRAS; MPL; NFE2; NPM1; NRAS; PTPN11; RUNX1; SETBP1; SF3B1; SH2B3; SRSF2; TET2; TP53; U2AF1; WT1; ZRSR2). Libraries were prepared on 200 ng extracted from whole-blood DNA (Qiagen), and sequencing was performed on a MiSeq instrument (Illumina). Bioinformatics were performed at Sophia Genetics (Switzerland) using the SOPHIA DDM software. Mean coverage 10% quantile for the 8 samples analyzed was 3004X with a mean coverage heterogeneity at 0.07%. Significant variants were retained with a sensitivity of 1%.

Copyright and License information:  ©2022 by The American Society of Hematology. Licensed under , permitting only noncommercial, nonderivative use with attribution. All other rights reserved.

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