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Genetic and molecular architecture of complex traits

Lappalainen, Tuuli (author)
KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,New York Genome Center, New York, NY, USA
Li, Yang I. (author)
Section of Genetic Medicine, University of Chicago, Chicago, IL, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA
Ramachandran, Sohini (author)
Ecology, Evolution and Organismal Biology, Center for Computational Molecular Biology, and the Data Science Institute, Brown University, Providence, RI 029129, USA
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Gusev, Alexander (author)
Harvard Medical School and Dana-Farber Cancer Institute, Boston, MA, USA
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 (creator_code:org_t)
Elsevier BV, 2024
2024
English.
In: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 187:5, s. 1059-1075
  • Research review (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

NATURVETENSKAP  -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)

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Royal Institute of Technology

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