73
Participants
Start Date
February 27, 2021
Primary Completion Date
March 30, 2022
Study Completion Date
March 30, 2022
genetic analysis
"Intervention details: sampling in peripheral blood for the Methodology:~1. Automatic DNA extraction (ChemagicTM 360)~2. Mass sequencing using SeqCap EZ Choice Library capture technology (NimbleGen) and NextSeq sequencer (Illumina).~3. Bioinformatic analysis:.~ * Identification of point mutations and small deletions or insertions~ * Analysis of CNVs using the BEDtools program package~ * Search of the identified variants in the following public databases: 1000G, dbSNP, ExAC, EVS, GenomADm CSVS and DGV. Those with a MAF\> 1% have been considered benign, in public or private databases of our population.~The analysis process has focused exclusively on the genes described to date as associated with the pathology under study and included in the panel used. The reference sequences used for these genes are: determination of possible mutations, nucleotics, etc."
Hospital Universitario Virgen del Rocio, Seville
Hospital Universitario Virgen del Rocio, Seville
Hospitales Universitarios Virgen del Rocío
OTHER