Genetic and molecular architecture of complex traits

被引:2
|
作者
Lappalainen, Tuuli [1 ,2 ]
Li, Yang I. [3 ,4 ]
Ramachandran, Sohini [5 ,6 ]
Gusev, Alexander [7 ,8 ]
机构
[1] New York Genome Ctr, New York, NY 10013 USA
[2] KTH Royal Inst Technol, Dept Gene Technol, Sci Life Lab, Stockholm, Sweden
[3] Univ Chicago, Sect Genet Med, Chicago, IL USA
[4] Univ Chicago, Dept Human Genet, Chicago, IL USA
[5] Brown Univ, Ctr Computat Mol Biol, Ecol Evolut & Organismal Biol, Providence, RI USA
[6] Brown Univ, Data Sci Inst, Providence, RI USA
[7] Harvard Med Sch, Boston, MA USA
[8] Dana Farber Canc Inst, Boston, MA USA
基金
欧洲研究理事会;
关键词
TRANSCRIPTOME-WIDE ASSOCIATION; POLYGENIC RISK SCORES; PARTITIONING HERITABILITY; DEMOGRAPHIC HISTORY; COMMON DISEASE; EXPRESSION; DIVERSITY; DISCOVERY; VARIANTS; LOCI;
D O I
10.1016/j.cell.2024.01.023
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Human genetics has emerged as one of the most dynamic areas of biology, with a broadening societal impact. In this review, we discuss recent achievements, ongoing efforts, and future challenges in the field. Advances in technology, statistical methods, and the growing scale of research efforts have all provided many insights into the processes that have given rise to the current patterns of genetic variation. Vast maps of genetic associations with human traits and diseases have allowed characterization of their genetic architecture. Finally, studies of molecular and cellular effects of genetic variants have provided insights into biological processes underlying disease. Many outstanding questions remain, but the field is well poised for groundbreaking discoveries as it increases the use of genetic data to understand both the history of our species and its applications to improve human health.
引用
收藏
页码:1059 / 1075
页数:17
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