Project description:We utilized 343 longitudinal plasma DNA samples from 43 ALK+ NSCLC patients receiving targeted ALK therapy to evaluate ctDNA levels based on matched panel-based targeted next generation sequencing (tNGS) and untargeted shallow whole genome sequencing (sWGS). We measured the mean variant allele frequency (VAFmean) of genetic alterations called by tNGS and applied the t-MAD score as surrogate for the global copy number changes reflected by ctDNA. Both NGS metrics were assessed as indicators of disease progression, and more importantly, early molecular progression. Systematic establishment of thresholds in VAFmean and t-MAD changes indicating clinical progression was performed in our study cohort.
| EGAS00001005327 | EGA
Project description:Clinical applications of targeted next-generation sequencing (tNGS) in bilateral lung infection with ineffective initial antimicrobial treatment
Project description:Tumor mutation burden (TMB) is an emerging biomarker, whose calculation requires targeted sequencing of many genes. We investigated if the measurement of mutation counts within a single gene is representative of TMB. Whole exome sequencing (WES) data from the pan-cancer cohort (n=10,224) of TCGA, and targeted sequencing (tNGS) and TTN gene sequencing from 24 colorectal cancer samples (AMC cohort) were analyzed.
Project description:Some data was previously submitted data under study number EGAS00001004276. In this new dataset we provide additional WGS and Avenio Surveillance Panel data. We utilized 43 ALK+ NSCLC patients receiving targeted ALK therapy to evaluate ctDNA levels based on matched panel-based targeted next generation sequencing (tNGS) and untargeted shallow whole genome sequencing (sWGS). For the Avenio panel the sequencing was done on Illumina NextSeq 550 paired end 150 bp, for WGS the sequencing was done on Illumina HiSeq 4000, partly with KAPA_Hyper_Prep_Kit. In this dataset there are 132 WGS tumor samples and 134 panel sequencing data of plasma.