owencqueen/cgbench_data huggingface dataset:
Expression A
Evidence showing the gene is expressed in tissues relevant to the disease of interest and/or is altered in expression in patients who have the disease. This category is specific to methods to detect RNA transcripts (RNAseq, microarrays, qPCR, qRT-PCR, Real-Time PCR). Expert reviewers may specify appropriate uses of this category in the context of their particular disease domain.  For example, groups may choose to award points based on the specificity of expression in relevant organs.
Expression B
Evidence showing the gene is expressed in tissues relevant to the disease of interest and/or is altered in expression in patients who have the disease. This category is specific to methods to detect protein expression (western blot, immunohistochemistry). Expert reviewers may specify appropriate uses of this category in the context of their particular disease domain.  For example, groups may choose to award points based on the specificity of expression in relevant organs.
Functional Alteration Patient cells
Evidence showing the gene and/or gene product function is demonstrably altered in cultured patient cells carrying candidate variants. This category is specific to experiments conducted in patient cells. For instance, does disrupting the gene in cells have a phenotype similar to that in human patients?  Examples include experiments involving gene knock-down, overexpression, etc.
Functional Alteration Non-patient cells
Evidence showing the gene and/or gene product function is demonstrably altered in cultured non-patient cells carrying candidate variants. This category is specific to experiments conducted in non-patient cells. For instance, does disrupting the gene in cells have a phenotype similar to that in human patients?  Examples include experiments involving gene knock-down, overexpression, etc.
Rescue Human
Summarize evidence showing the phenotype in humans (i.e. patients with the condition) can be rescued by exogenous wild-type gene or gene product. For example, successful enzyme replacement therapy for a lysosomal storage disease.
Rescue Patient Cells
Summarize evidence showing the phenotype in patient cells can be rescued by exogenous wild-type gene or gene product.
Rescue Non-human model organism
Summarize evidence showing the phenotype in non-human model organisms can be rescued by exogenous wild-type gene or gene product. Note: While the default points and range of points are the same for human and non-human model organism, consider awarding more points if the rescue was in a human.
Rescue Cell culture model
Summarize evidence showing the phenotype in cell culture models (i.e. a cell culture model engineered to express the variant of interest) can be rescued by exogenous wild-type gene or gene product.