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
相关论文
共 50 条
  • [41] Probabilistic inference of the genetic architecture underlying functional enrichment of complex traits
    Marion Patxot
    Daniel Trejo Banos
    Athanasios Kousathanas
    Etienne J. Orliac
    Sven E. Ojavee
    Gerhard Moser
    Alexander Holloway
    Julia Sidorenko
    Zoltan Kutalik
    Reedik Mägi
    Peter M. Visscher
    Lars Rönnegård
    Matthew R. Robinson
    [J]. Nature Communications, 12
  • [42] Author Correction: A global overview of pleiotropy and genetic architecture in complex traits
    Kyoko Watanabe
    Sven Stringer
    Oleksandr Frei
    Maša Umićević Mirkov
    Christiaan de Leeuw
    Tinca J. C. Polderman
    Sophie van der Sluis
    Ole A. Andreassen
    Benjamin M. Neale
    Danielle Posthuma
    [J]. Nature Genetics, 2020, 52 : 353 - 353
  • [43] QTLNetwork: mapping and visualizing genetic architecture of complex traits in experimental populations
    Yang, Jian
    Hu, Chengcheng
    Hu, Han
    Yu, Rongdong
    Xia, Zhen
    Ye, Xiuzi
    Zhu, Jun
    [J]. BIOINFORMATICS, 2008, 24 (05) : 721 - 723
  • [44] Genetic effects on molecular network states explain complex traits
    Weith, Matthias
    Grossbach, Jan
    Clement-Ziza, Mathieu
    Gillet, Ludovic
    Rodriguez-Lopez, Maria
    Marguerat, Samuel
    Workman, Christopher T.
    Picotti, Paola
    Baehler, Jurg
    Aebersold, Ruedi
    Beyer, Andreas
    [J]. MOLECULAR SYSTEMS BIOLOGY, 2023, 19 (08)
  • [45] The genetic architecture of quantitative traits
    Mackay, TFC
    [J]. ANNUAL REVIEW OF GENETICS, 2001, 35 : 303 - 339
  • [46] Molecular dissection of the genetic basis underlying plant complex traits
    Yang, Yuchen
    [J]. FRONTIERS IN GENETICS, 2023, 14
  • [47] The Genetic Architecture of Behavioural Traits
    Mitchell, Kevin J.
    [J]. EUROPEAN JOURNAL OF PERSONALITY, 2011, 25 (04) : 279 - 280
  • [48] Genetic architecture of cognitive traits
    Hellard, Stephanie
    Steen, Vidar M.
    [J]. SCANDINAVIAN JOURNAL OF PSYCHOLOGY, 2014, 55 (03) : 255 - 262
  • [49] Integrating Nonadditive Genomic Relationship Matrices into the Study of Genetic Architecture of Complex Traits
    Nazarian, Alireza
    Gezan, Salvador A.
    [J]. JOURNAL OF HEREDITY, 2016, 107 (02) : 153 - 162
  • [50] Understanding the genetic architecture of complex traits using the function-valued approach
    Hernandez, Kyle M.
    [J]. NEW PHYTOLOGIST, 2015, 208 (01) : 1 - 3