Understanding genetic variation is key to gain insight into biological and potential disease-associated mechanisms. To this end, state-of-the-art high throughput sequencing technology is essential to determine an individual’s DNA sequence. Initially, the Institute of Human Genetics used the Sanger chain-terminating dideoxynucleotide method to sequence single genes. In 2009, the Institute established the RetChip, a first multigene panel chip to sequence retinal disease genes, followed in 2012 by a first Ion Torrent next-generation sequencing system. The latter systems allowed the sequencing of many genes in parallel and with reduced costs in time and personell. The capacity was then extended by acquisition of a sequencing platform with MiSeq and NextSeq 550 apparatuses. This enables us to perform RNA sequencing (RNA-Seq) and whole-exome sequencing (WES) analyses.
With increasing sequence data accumulation and further demands on functional assessment of genetic variants, high throughput computational capacity becomes essential. We have many decades of experience with complex data and bioinformatic processing and evaluation of sequencing data.