Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.
Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.
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DOI：
10.1002/humu.22052
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发表时间：
2012-05
期刊：
影响因子：
3.9
通讯作者：
Van Vooren, Steven
中科院分区：
文献类型：
--
作者：
Riggs, Erin Rooney;Jackson, Laird;Miller, David T.;Van Vooren, Steven
关键词：
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，导致比以往任何时候都更广泛地检测人类变异。解释这些信息将取决于全面和准确的表型信息的可用性，以及管理，存储和访问基因型-表型关系数据的能力。这个想法已经在染色体微阵列（CMA）测试中得到了证明。细胞基因组阵列国际标准（ISCA）联盟通过其倡议，包括形成一个公开的数据库，存储临床CMA数据，促进该技术的变异解释标准化。认识到表型数据对于解释基因组变异至关重要，ISCA联盟已经开发了工具来促进这些数据的收集，并将其以标准化的结构化格式存入ISCA联盟数据库。这种丰富的表型数据来源也可以用于更广泛的应用，例如开发新出现的基因组疾病的表型谱，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，作为一个模型，正在努力将表型数据与基因型数据相结合，以提高人类遗传学研究和临床护理的质量。
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 chromosome 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 is essential for the interpretation of genomic variants, the ISCA Consortium has developed tools to facilitate the collection of this 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, the identification of candidate regions for particular phenotypes, or the 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.
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