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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Main Authors: Nadav Brandes, Omer Weissbrod, Michal Linial
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Genome Biology
Subjects:
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.
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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
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