SNP-based heritability and selection analyses: Improved models and new results.
Bioessays
; 44(5): e2100170, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-35279859
ABSTRACT
Complex-trait genetics has advanced dramatically through methods to estimate the heritability tagged by SNPs, both genome-wide and in genomic regions of interest such as those defined by functional annotations. The models underlying many of these analyses are inadequate, and consequently many SNP-heritability results published to date are inaccurate. Here, we review the modelling issues, both for analyses based on individual genotype data and association test statistics, highlighting the role of a low-dimensional model for the heritability of each SNP. We use state-of-art models to present updated results about how heritability is distributed with respect to functional annotations in the human genome, and how it varies with allele frequency, which can reflect purifying selection. Our results give finer detail to the picture that has emerged in recent years of complex trait heritability widely dispersed across the genome. Confounding due to population structure remains a problem that summary statistic analyses cannot reliably overcome. Also see the video abstract here https//youtu.be/WC2u03V65MQ.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo de Nucleótido Simple
/
Estudio de Asociación del Genoma Completo
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Bioessays
Asunto de la revista:
BIOLOGIA
/
BIOLOGIA MOLECULAR
Año:
2022
Tipo del documento:
Article
País de afiliación:
Dinamarca