6533b7ddfe1ef96bd1273edf

RESEARCH PRODUCT

R-Score: A New Parameter to Assess the Quality of Variants’ Calls Assessed by NGS Using Liquid Biopsies

Mariano ProvencioRoberto Serna-blascoAtocha RomeroMiguel Angel Molina-vilaEstela Sánchez-herreroSilvia Calabuig-fariñasMaría Berrocal Renedo

subject

Oncologymedicine.medical_specialtyKey genesQH301-705.5BiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciences0302 clinical medicineInternal medicinemedicineDigital polymerase chain reactionBiology (General)Liquid biopsy030304 developmental biology0303 health sciencesGeneral Immunology and MicrobiologyPlasma samplesliquid biopsyvariant callingVariant allelectDNArespiratory systemfiltering3. Good healthEgfr mutation030220 oncology & carcinogenesisNGSVAFNon small cellLinear correlationGeneral Agricultural and Biological Sciences

description

Next-generation sequencing (NGS) has enabled a deeper knowledge of the molecular landscape in non-small cell lung cancer (NSCLC), identifying a growing number of targetable molecular alterations in key genes. However, NGS profiling of liquid biopsies risk for false positive and false negative calls and parameters assessing the quality of NGS calls remains lacking. In this study, we have evaluated the positive percent agreement (PPA) between NGS and digital PCR calls when assessing EGFR mutation status using 85 plasma samples from 82 EGFR-positive NSCLC patients. According to our data, variant allele fraction (VAF) was significantly lower in discordant calls and the median of the absolute values of all pairwise differences (MAPD) was significantly higher in discordant calls (p &lt

yearjournalcountryeditionlanguage
2021-09-01Biology
10.3390/biology10100954http://europepmc.org/articles/PMC8533561