Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

被引：13

作者：

Wang, Yung-Chun ^{[1
]}

Wu, Yuchang ^{[2
]}

Choi, Julie ^{[1
]}

Allington, Garrett ^{[3
,4
]}

Zhao, Shujuan ^{[1
]}

Khanfar, Mariam ^{[1
]}

Yang, Kuangying ^{[1
]}

Fu, Po-Ying ^{[1
]}

Wrubel, Max ^{[1
]}

Yu, Xiaobing ^{[1
,5
]}

Mekbib, Kedous Y. ^{[6
]}

Ocken, Jack ^{[6
]}

Smith, Hannah ^{[4
,6
]}

Shohfi, John ^{[6
]}

Kahle, Kristopher T. ^{[4
,7
,8
,9
,10
]}

Lu, Qiongshi ^{[2
]}

Jin, Sheng Chih ^{[1
,11
]}

机构：

[1] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

[2] Univ Wisconsin Madison, Dept Biostat & Med Informat, Madison, WI 53706 USA

[3] Yale Sch Med, Dept Pathol, New Haven, CT 06510 USA

[4] Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA

[5] Washington Univ, Dept Comp Sci & Engn, St Louis, MO 63130 USA

[6] Yale Univ, Dept Neurosurg, Sch Med, New Haven, CT 06510 USA

[7] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

[8] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[9] Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA

[10] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[11] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

来源：

JOURNAL OF PERSONALIZED MEDICINE | 2022年 / 12卷 / 02期

关键词：

rare variant; common variant; statistical genetics; genomics; bioinformatics; gene therapy; precision medicine; DE-NOVO MUTATIONS; CONGENITAL HEART-DISEASE; X-CHROMOSOME INACTIVATION; ASSOCIATION ANALYSIS; WIDE ASSOCIATION; DIGENIC INHERITANCE; RPE65; MUTATIONS; COMMON DISEASES; BRIEF-HISTORY; RISK GENES;

D O I：

10.3390/jpm12020175

中图分类号：

R19 [保健组织与事业（卫生事业管理）];

学科分类号：

摘要：

Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for complex human diseases. As we continue to see an expansion of these advances in the field, it is now imperative for researchers to understand the resources and methodologies available for various data types and study designs. In this review, we provide an overview of recent methods for identifying rare and common variants and understanding their roles in disease etiology. Additionally, we discuss the strategy, challenge, and promise of gene therapy. As computational and statistical approaches continue to improve, we will have an opportunity to translate human genetic findings into personalized health care.

引用

页数：21

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