Workflow from Scientific Research

Open access visualization of Workflow, Flowchart, Individuals, Tumors, RNA-seq
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Altogether, 860 individuals with ULs entered the study. SET I contained 106 individuals with no UL driver mutations in their tumors (UNKNOWN ULs). RNA-seq or WGS data available from 75 individuals revealed one ACTL6A germline mutation. The remaining 31 individuals entered the H2A.Z IHC pre-screening and/or the Sanger sequencing. From SET II, all the UNKNOWN tumors from 29 individuals were selected for the H2A.Z IHC and the subsequent Sanger sequencing. Sanger sequencing revealed two individuals with a YEATS4 and four with a DMAP1 germline mutation. Selection criteria for the studied individuals is explained in a more detailed manner in the material and methods section.

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