After 3 months, the National Center for Genomic Analysis (CNAG) sent the first batch of sequencing results of biobanked germline blood DNA samples from the first round of patients. The files received were processed through an already established and validated bioinformatic pipeline to ensure high-quality sequencing results. Using this wide array of specific software algorithms, we will seek to identify potentially pathogenic genetic variants, copy number variants (CNV) and gross genomic alterations that could predispose to colorectal cancer.
During this time, the first round of nucleic acid extractions from cryo-preserved biological samples from patients enrolled in the study was performed. The quality and quantitative study of the DNA and RNA extracted were verified using the Functional Genomics platform of IDIBAPS, to ensure the high-integrity and pureness of the DNA and RNA obtained, free of contamination. For those samples that did not meet the CNAG sequencing quality requirements, more sample was requested to biobank to repeat the extractions.
It’s worth highlighting that on Tuesday 26/04/22 we received the visit of a group of workers from AECC-Junta Barcelona in our laboratory.