Open problems in human trait genetics.
Genome Biol
; 23(1): 131, 2022 06 20.
Article
en En
| MEDLINE
| ID: mdl-35725481
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.
Palabras clave
Causal variants; Complex human traits; Diversity; Epistatis; GWAS; Gene-environment interactions; Genome-wide association studies; GxE; GxG; Heritability; Human phenotypes; Linkage disequilibrium; Missing heritability; Non-additive genetic effects; PRS; Polygenic risk scores; Population structure; Rare variants; Recessive effects; Statistical genetics
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Herencia Multifactorial
/
Estudio de Asociación del Genoma Completo
Límite:
Humans
Idioma:
En
Revista:
Genome Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Israel