Open problems in human trait genetics
Abstract Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and yet, the genetics of most traits is still poorly understood. In this review, we highlight the major open problems that need to be solved, and by discussing these challenges provid...
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Format: | Article |
Language: | English |
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BMC
2022-06-01
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Series: | Genome Biology |
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Online Access: | https://doi.org/10.1186/s13059-022-02697-9 |
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author | Nadav Brandes Omer Weissbrod Michal Linial |
author_facet | Nadav Brandes Omer Weissbrod Michal Linial |
author_sort | Nadav Brandes |
collection | DOAJ |
description | Abstract Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and yet, the genetics of most traits is still poorly understood. In this review, we highlight the major open problems that need to be solved, and by discussing these challenges provide a primer to the field. We cover general issues such as population structure, epistasis and gene-environment interactions, data-related issues such as ancestry diversity and rare genetic variants, and specific challenges related to heritability estimates, genetic association studies, and polygenic risk scores. We emphasize the interconnectedness of these problems and suggest promising avenues to address them. |
first_indexed | 2024-12-12T08:02:45Z |
format | Article |
id | doaj.art-f34c94b0917f46d98f6c1a03acf39d02 |
institution | Directory Open Access Journal |
issn | 1474-760X |
language | English |
last_indexed | 2024-12-12T08:02:45Z |
publishDate | 2022-06-01 |
publisher | BMC |
record_format | Article |
series | Genome Biology |
spelling | doaj.art-f34c94b0917f46d98f6c1a03acf39d022022-12-22T00:32:05ZengBMCGenome Biology1474-760X2022-06-0123113210.1186/s13059-022-02697-9Open problems in human trait geneticsNadav Brandes0Omer Weissbrod1Michal Linial2School of Computer Science and Engineering, The Hebrew University of JerusalemDepartment of Epidemiology, Harvard T.H. Chan School of Public HealthDepartment of Biological Chemistry, The Alexander Silberman Institute of Life Sciences, The Hebrew University of JerusalemAbstract Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and yet, the genetics of most traits is still poorly understood. In this review, we highlight the major open problems that need to be solved, and by discussing these challenges provide a primer to the field. We cover general issues such as population structure, epistasis and gene-environment interactions, data-related issues such as ancestry diversity and rare genetic variants, and specific challenges related to heritability estimates, genetic association studies, and polygenic risk scores. We emphasize the interconnectedness of these problems and suggest promising avenues to address them.https://doi.org/10.1186/s13059-022-02697-9Statistical geneticsHuman phenotypesComplex human traitsGWASGenome-wide association studiesPRS |
spellingShingle | Nadav Brandes Omer Weissbrod Michal Linial Open problems in human trait genetics Genome Biology Statistical genetics Human phenotypes Complex human traits GWAS Genome-wide association studies PRS |
title | Open problems in human trait genetics |
title_full | Open problems in human trait genetics |
title_fullStr | Open problems in human trait genetics |
title_full_unstemmed | Open problems in human trait genetics |
title_short | Open problems in human trait genetics |
title_sort | open problems in human trait genetics |
topic | Statistical genetics Human phenotypes Complex human traits GWAS Genome-wide association studies PRS |
url | https://doi.org/10.1186/s13059-022-02697-9 |
work_keys_str_mv | AT nadavbrandes openproblemsinhumantraitgenetics AT omerweissbrod openproblemsinhumantraitgenetics AT michallinial openproblemsinhumantraitgenetics |