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). An example scenario to consider for altered expression in patients includes studies in which expression of the gene of interest (and possibly additional genes) is examined in tissue and/or cell samples obtained from individuals with the disease of interest in which the molecular etiology is unknown. For instance, tissue samples from 10 individuals diagnosed with hypertrophic cardiomyopathy were examined by western blot analysis and found that gene X was reduced in the heart cells of all patients. 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). An example scenario to consider for altered expression in patients includes studies in which expression of the gene of interest (and possibly additional genes) is examined in tissue and/or cell samples obtained from individuals with the disease of interest in which the molecular etiology is unknown. For instance, tissue samples from 10 individuals diagnosed with hypertrophic cardiomyopathy were examined by western blot analysis and found that gene X was reduced in the heart cells of all patients. 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.
Rescue Human
Evidence showing that the phenotype in humans (i.e., patients with the condition) can be rescued. For example, successful enzyme replacement therapy for a lysosomal storage disease. If the phenotype is caused by loss of function, summarize evidence showing that the phenotype can be rescued by exogenous wild-type gene, gene product, or targeted gene editing. If the phenotype is caused by a gain-of-function variant, summarize evidence showing that a treatment which specifically blocks the action of the variant (e.g., siRNA, antibody, targeted gene editing) rescues the phenotype. While the default points and point range are the same for human and non-human model organisms, consider awarding more points if the rescue was in a human.
Rescue Cell culture model
Evidence showing that the phenotype in cell culture models can be rescued. If the phenotype is caused by loss of function, summarize evidence showing that the phenotype can be rescued by exogenous wild-type gene, gene product, or targeted gene editing. If the phenotype is caused by a gain-of-function variant, summarize evidence showing that a treatment which specifically blocks the action of the variant (e.g., siRNA, antibody, targeted gene editing) rescues the phenotype.