Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.
Parkinson’s disease
african ancestry
bioinformatic pipelines
diverse populations
familial PD
next-generation sequencing
third-generation sequencing
whole-exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
23
09
2021
accepted:
12
01
2022
entrez:
18
3
2022
pubmed:
19
3
2022
medline:
19
3
2022
Statut:
epublish
Résumé
Parkinson's disease is a neurodegenerative disorder with a heterogeneous genetic etiology. The advent of next-generation sequencing (NGS) technologies has aided novel gene discovery in several complex diseases, including PD. This Perspective article aimed to explore the use of NGS approaches to identify novel loci in familial PD, and to consider their current relevance. A total of 17 studies, spanning various populations (including Asian, Middle Eastern and European ancestry), were identified. All the studies used whole-exome sequencing (WES), with only one study incorporating both WES and whole-genome sequencing. It is worth noting how additional genetic analyses (including linkage analysis, haplotyping and homozygosity mapping) were incorporated to enhance the efficacy of some studies. Also, the use of consanguineous families and the specific search for
Identifiants
pubmed: 35299952
doi: 10.3389/fgene.2022.781816
pii: 781816
pmc: PMC8921601
doi:
Types de publication
Journal Article
Langues
eng
Pagination
781816Informations de copyright
Copyright © 2022 Pillay, Ross, Christoffels and Bardien.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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