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首页> 外文期刊>Human mutation >Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.
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Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.

机译：基因组变异数据库中的表型信息增强了临床护理和研究：细胞基因组阵列国际标准的经验。

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Whole-genome analysis, now including whole-genome sequencing, is moving rapidly into the clinical setting, leading to detection of human variation on a broader scale than ever before. Interpreting this information will depend on the availability of thorough and accurate phenotype information, and the ability to curate, store, and access data on genotype-phenotype relationships. This idea has already been demonstrated within the context of chromosomal microarray (CMA) testing. The International Standards for Cytogenomic Arrays (ISCA) Consortium promotes standardization of variant interpretation for this technology through its initiatives, including the formation of a publicly available database housing clinical CMA data. Recognizing that phenotypic data are essential for the interpretation of genomic variants, the ISCA Consortium has developed tools to facilitate the collection of these data and its deposition in a standardized structured format within the ISCA Consortium database. This rich source of phenotypic data can also be used within broader applications such as developing phenotypic profiles of emerging genomic disorders, identification of candidate regions for particular phenotypes, or creation of tools for use in clinical practice. We summarize the ISCA experience as a model for ongoing efforts incorporating phenotype data with genotype data to improve the quality of research and clinical care in human genetics.
机译：全基因组分析，现在包括全基因组测序，正在迅速进入临床环境，从而导致检测人类变异的范围比以往任何时候都大。解释此信息将取决于透彻和准确的表型信息的可用性，以及根据基因型-表型关系管理，存储和访问数据的能力。这个想法已经在染色体微阵列（CMA）测试的背景下得到了证明。细胞基因组阵列国际标准（ISCA）联盟通过其举措，包括建立可公开获得的包含临床CMA数据的数据库，促进了该技术变异解释的标准化。认识到表型数据对于基因组变异的解释是必不可少的，因此ISCA联盟已经开发了各种工具，以促进这些数据的收集及其在ISCA联盟数据库中以标准化结构格式的沉积。这种丰富的表型数据来源还可以用于更广泛的应用中，例如开发新兴的基因组疾病的表型图谱，识别特定表型的候选区域或创建用于临床实践的工具。我们总结了ISCA的经验，将其作为将表型数据与基因型数据结合起来以改善人类遗传学研究和临床护理质量的持续努力的典范。

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