Evidence profiles

Profiles are reusable checklists of evidence rules. They define what should be verified, how each finding is interpreted, and whether accountable evidence is present during an analysis.

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profiles

rules indexed

projects

completed runs

5 shown·limited to 80 results

Profile	Domain	Usage signal	Rules	Action
WGS rare disease proband profilev1.0Community Single proband WGS candidate variant review where evidence is assessed across genotype validity, population frequency, public clinical assertions, gene disease consistency, phenotype fit, control observations, and UniProt functional annotation.	Clinical Genetics	New0 projects · 0 cases · 0 runs	21	View Use
Multiomics target evidence profilev1.0Community Candidate target review where each candidate must have accountable evidence across available omics layers.	Multiomics	New0 projects · 0 cases · 0 runs	7	View Use
SGA QEM trio rare disease screeningv1.0Community Trio-based whole-genome sequencing for rare Mendelian disease screening	Clinical Genetics	New0 projects · 0 cases · 0 runs	5	View Use
Biotech multiomics compound screen demov1.0Community Multiomics compound screening	Other	New0 projects · 0 cases · 0 runs	4	View Use
Wet lab plasmid verification demov1.0Community Wet lab plasmid and construct verification	Wet Lab	New0 projects · 0 cases · 0 runs	4	View Use