The design of the study is to prospectively profile newly diagnosed, treatment naive MM from 1000 patients with longitudinal clinical follow up. Tumor specimens collected at diagnosis and relapse are interrogated by whole-exome, modified low pass whole-genome, and or RNA sequencing. The longitudinal component requires clinical follow-up of each patient with collection of clinical parameters four times annually over a period of 10 years. Furthermore, each patient participating into the study underwent an IMID and/or Proteasome inhibitor based treatment regimen at diagnosis determined by the treating oncologist.
CoMMpass data are systematically analyzed and periodically released in the form of Interim Analyses on a biannual basis. Interim Analysis 9 (IA9) is comprised of 796 unique baseline newly diagnosed bone-marrow samples with high quality WES data of which, 75 have confirmed progression with comprehensive clinical annotation. In addition, IA9 is comprised of 520 bone marrow baseline samples that were analyzed by both whole-exome and RNAseq platforms. The data is publically available at dbGAP accession number phs000748.
In this study, we performed our analysis on whole-exome data from 741 of treatment-naïve bone marrow derived MM matched normal samples from IA9, from those cases who self-reported race as either African American or Caucasian. To ensure high quality WES data for downstream copy number analysis, we removed samples that had maximum segmentation count above 2,500 to be in concordance with GISTIC 2.0 recommendation of maximum segment counts [22 (link)]. This resulted in final 721 samples that passed the quality threshold and were used to determine genetic ancestry across the samples.
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