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全基因组关联研究变异体的功能研究正在兴起。

Functional studies of GWAS variants are gaining momentum.

机构信息

Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK.

Open Targets, Wellcome Genome Campus, Cambridge, UK.

出版信息

Nat Commun. 2020 Dec 8;11(1):6283. doi: 10.1038/s41467-020-20188-y.

DOI:10.1038/s41467-020-20188-y
PMID:33293539
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7722852/
Abstract

Rapidly advancing genomic technologies and cross-disciplinary partnerships are accelerating the biological and clinical interpretation of genome-wide association studies, with some therapies developed based on these findings already being tested in clinical trials. The next decade promises further progress in understanding the function of genetic variants.

摘要

快速发展的基因组技术和跨学科合作正在加速全基因组关联研究的生物学和临床解释,一些基于这些发现开发的疗法已经在临床试验中进行测试。未来十年有望在理解遗传变异的功能方面取得进一步进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce4/7722852/1be7e0ce096b/41467_2020_20188_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce4/7722852/1be7e0ce096b/41467_2020_20188_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4ce4/7722852/1be7e0ce096b/41467_2020_20188_Fig1_HTML.jpg

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