Genomic Diversity Evaluation of
annotation
genes
genetic architecture
missing heritability
rare defective alleles
small genetic variants
variant calling comparisons
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2019
2019
Historique:
received:
19
09
2019
accepted:
18
12
2019
entrez:
13
2
2020
pubmed:
13
2
2020
medline:
13
2
2020
Statut:
epublish
Résumé
Genome-wide association studies are powerful tools to elucidate the genome-to-phenome relationship. In order to explain most of the observed heritability of a phenotypic trait, a sufficient number of individuals and a large set of genetic variants must be examined. The development of high-throughput technologies and cost-efficient resequencing of complete genomes have enabled the genome-wide identification of genetic variation at large scale. As such, almost all existing genetic variation becomes available, and it is now possible to identify rare genetic variants in a population sample. Rare genetic variants that were usually filtered out in most genetic association studies are the most numerous genetic variations across genomes and hold great potential to explain a significant part of the missing heritability observed in association studies. Rare genetic variants must be identified with high confidence, as they can easily be confounded with sequencing errors. In this study, we used a pre-filtered data set of 1,014 pure
Identifiants
pubmed: 32047512
doi: 10.3389/fgene.2019.01384
pmc: PMC6997551
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1384Informations de copyright
Copyright © 2020 Piot, Prunier, Isabel, Klápště, El-Kassaby, Villarreal Aguilar and Porth.
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