多效性数据资源作为调查共病/多病及其在疾病中的作用的引物。

Violeta Muñoz-Fuentes, Hamed Haselimashhadi, Luis Santos, Henrik Westerberg, Helen Parkinson, Jeremy Mason
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引用次数: 2

摘要

目前大多数生物医学和蛋白质研究只关注一小部分基因,这导致失去了识别新的基因-疾病关联和探索治疗干预新机会的机会。国际小鼠表型联盟(International Mouse Phenotyping Consortium, IMPC)专注于大规模地阐明特征不明确和/或研究不足的基因的基因功能。IMPC倡议的一个关键组成部分是实施广泛的表型管道,这有助于发现多效性。表征多效性对于确定基因与疾病的关联至关重要,在阐明综合征性疾病的遗传原因时尤为重要。在这里,我们展示了IMPC如何有效地揭示多效性,以及由IMPC产生的新的小鼠模型和基因功能假设如何增加我们对哺乳动物基因组的理解,形成新的研究基础,并确定新的基因-疾病关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.

Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.

Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.

Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.

Most current biomedical and protein research focuses only on a small proportion of genes, which results in a lost opportunity to identify new gene-disease associations and explore new opportunities for therapeutic intervention. The International Mouse Phenotyping Consortium (IMPC) focuses on elucidating gene function at scale for poorly characterized and/or under-studied genes. A key component of the IMPC initiative is the implementation of a broad phenotyping pipeline, which is facilitating the discovery of pleiotropy. Characterizing pleiotropy is essential to identify gene-disease associations, and it is of particular importance when elucidating the genetic causes of syndromic disorders. Here we show how the IMPC is effectively uncovering pleiotropy and how the new mouse models and gene function hypotheses generated by the IMPC are increasing our understanding of the mammalian genome, forming the basis of new research and identifying new gene-disease associations.

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