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Fig. 2 | Genome Medicine

Fig. 2

From: Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Fig. 2

Massively parallel sequencing (MPS)-based diagnostics at the Genomic Medicine Center Karolinska. Timeline showing the integration of genome sequencing into healthcare by gradually adding novel components to the workflow. Blue = MPS pilots; red = clinical routine analysis; black = bioinformatic softwares developed in-house; green = sequencing instruments; gold = organizational structures/resources. GMCK-RD, Genomic Medicine Center Karolinska-Rare Diseases; LI, low input DNA; MIP, mutation identification pipeline; rWGS, rapid whole genome sequencing; Scilifelab, Science for Life Laboratory; SNV, single nucleotide variant; SMN, copy number identification of SMN1 and SMN2 genes; STR, short tandem repeat; SV, structural variant; UPD, uniparental disomy; WES, whole exome sequencing; WGS, whole genome sequencing

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