دورية أكاديمية
Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations
| العنوان: | Rare variant association on unrelated individuals in case–control studies using aggregation tests: existing methods and current limitations |
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| المؤلفون: | Boutry, Simon, Helaers, Raphaël, Lenaerts, Tom, Vikkula, Miikka |
| المصدر: | Briefings in bioinformatics, 24 (6 |
| سنة النشر: | 2023 |
| المجموعة: | DI-fusion : dépôt institutionnel de l'Université libre de Bruxelles (ULB) |
| مصطلحات موضوعية: | Statistiques sanitaire et médicale, Sciences biomédicales en général, Informatique médicale, burden test, case-control samples, GWAS, omnibus tests, rare variant genetic association studies, variance-components test |
| الوصف: | Over the past years, progress made in next-generation sequencing technologies and bioinformatics have sparked a surge in association studies. Especially, genome-wide association studies (GWASs) have demonstrated their effectiveness in identifying disease associations with common genetic variants. Yet, rare variants can contribute to additional disease risk or trait heterogeneity. Because GWASs are underpowered for detecting association with such variants, numerous statistical methods have been recently proposed. Aggregation tests collapse multiple rare variants within a genetic region (e.g. gene, gene set, genomic loci) to test for association. An increasing number of studies using such methods successfully identified trait-associated rare variants and led to a better understanding of the underlying disease mechanism. In this review, we compare existing aggregation tests, their statistical features and scope of application, splitting them into the five classical classes: burden, adaptive burden, variance-component, omnibus and other. Finally, we describe some limitations of current aggregation tests, highlighting potential direction for further investigations. ; SCOPUS: re.j ; info:eu-repo/semantics/published |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 1 full-text file(s): application/pdf |
| اللغة: | English |
| العلاقة: | uri/info:doi/10.1093/bib/bbad412; uri/info:scp/85178350901; https://dipot.ulb.ac.be/dspace/bitstream/2013/366630/3/revised_manuscript_clean.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/366630Test |
| الإتاحة: | http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/366630Test https://dipot.ulb.ac.be/dspace/bitstream/2013/366630/3/revised_manuscript_clean.pdfTest |
| رقم الانضمام: | edsbas.98B6FD99 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |