Simultaneous, automated, fast and precise sequencing of the coding (exons) and non-coding (introns and regulatory sequences) of the human genome with an average coverage greater than 30x. Subsequently, using bioinformatics programs, tany genetic variants found in the genes that cause hereditary eye diseases are analyzed. Unlike analysis by specific panels or whole exome sequencing, whole genome sequencing allows to identify any type of mutation: single nucleotide variants, copy number variation and large genomic rearrangements.
All the coding (exons) and noncoding regions (introns and regulatory sequences) of the patient's genome are sequenced simultaneously.
It is the strategy of choice for the identification of large genomic rearrangements, copy number variations (CNVs) and deep-intronic mutations.