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ClinGen Dosage Sensitivity Map

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知名数据库2026-06-26 收录
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ClinGen Dosage Sensitivity Map是一个基因剂量敏感性数据库,收录了基因剂量敏感性的专业评估数据,包括HI分数、TS分数、pLI和LOEUF等指标。该数据库提供基因符号和基因组区域搜索功能,帮助研究人员了解基因拷贝数变化对表型的影响。数据来源于临床基因组学专家小组的系统性评估。

ClinGen Dosage Sensitivity Map is a gene dosage sensitivity database that collects professional assessment data on gene dosage sensitivity, including metrics such as HI score, TS score, pLI and LOEUF. This database provides search functions for gene symbols and genomic regions, helping researchers understand the impact of gene copy number variations on phenotypes. The data is derived from systematic assessments conducted by clinical genomics expert panels.

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ClinGen
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