机构：[1]Division of Hematology/Oncology, Boston Children’s Hospital Department of Pediatric Oncology, Dana-Farber Cancer Institute Harvard Stem Cell Institute Broad Institute Department of Pediatrics, Harvard Medical School, Boston, MA, USA[2]School of Basic Medicine, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants that influence risk for human diseases and traits. Yet understanding the mechanisms by which these genetic variants, mainly noncoding, have an impact on associated diseases and traits remains a significant hurdle. In this review, we discuss emerging experimental approaches that are being applied for functional studies of causal variants and translational advances from GWAS findings to disease prevention and treatment. We highlight the use of genome editing technologies in GWAS functional studies to modify genomic sequences, with proof-of-principle examples. We discuss the challenges in interrogating causal variants, points for consideration in experimental design and interpretation of GWAS locus mechanisms, and the potential for novel therapeutic opportunities. With the accumulation of knowledge of functional genetics, therapeutic genome editing based on GWAS discoveries will become increasingly feasible.
基金：
Burroughs Wellcome Fund: DP2HL137300 (D.E.B.), The National Heart, Lung,
and Blood Institute: P01HL032262 (D.E.B.), Sichuan Science and Technology
Program: 2019YFH0137 (Y.Y.), Chengdu University of Traditional Chinese
Medicine: XSGG2019004 (Y.Y.).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2021]版：
大类|1 区生物学
小类|1 区遗传学
最新[2023]版：
大类|1 区生物学
小类|1 区遗传学
第一作者：
第一作者机构：[1]Division of Hematology/Oncology, Boston Children’s Hospital Department of Pediatric Oncology, Dana-Farber Cancer Institute Harvard Stem Cell Institute Broad Institute Department of Pediatrics, Harvard Medical School, Boston, MA, USA
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Rao Shuquan,Yao Yao,Bauer Daniel E.Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.[J].Genome medicine.2021,13(1):41.doi:10.1186/s13073-021-00857-3.
APA：
Rao Shuquan,Yao Yao&Bauer Daniel E.(2021).Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation..Genome medicine,13,(1)
MLA：
Rao Shuquan,et al."Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.".Genome medicine 13..1(2021):41
生物学