Skip to main content
Figure 1 | Genome Biology

Figure 1

From: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Figure 1

Representative clinical report from two of the finalist teams (A and B). Desirable elements include subject demographics, indication for testing, use of HUGO-approved gene symbols, specification of the relevant variants at the genomic DNA, cDNA and protein levels including reference sequences and dbSNP identifiers, description of zygosity, estimation of insufficient coverage for candidate genes, and succinct clinical interpretation and interpretative summary. Note the use of different reference sequences, and the lack of specification in (B) makes direct correlation between reports difficult.

Back to article page

Genome Biology

ISSN: 1474-760X

Contact us