Search results for "Amplicon"
showing 3 items of 53 documents
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…
How to design an efficient and robust pipeline for 16S rRNA-gene sequence analysis to improve our understanding on microbial communities?
2015
Voici la composition du Comité d'Organisation (CO) de JOBIM 2015 Le Comité Logistique (CL) est présidé par : Philippe LEROY (UMR 1095 INRA/UBP, Unité Génétique, Diversité et Ecophysiologie des Céréales - GDEC, Clermont-Ferrand) Eric PEYRETAILLADE (Université d'Auvergne, Unité EA-CIDAM, Clermont-Ferrand) Trois personnes clefs: Secrétariat JOBIM2015 - Manon MARTINET (LB2MN-EA.CIDAM 4678, Université d'Auvergne) Gestion Administrative - Cathy RESSOT (Direction de la Recherche de l’Innovation et de la valorisation, Université d'Auvergne) Gestion Financière - Isabelle DELPIT (Direction de la Recherche de l’Innovation et de la valorisation, Université d'Auvergne) Le Comité Scientifique (CS) est pr…
Does Intraspecific Variation in rDNA Copy Number Affect Analysis of Microbial Communities?
2021
Amplicon sequencing of partial regions of the ribosomal RNA loci (rDNA) is widely used to profile microbial communities. However, the rDNA is dynamic and can exhibit substantial interspecific and intraspecific variation in copy number in prokaryotes and, especially, in microbial eukaryotes. As change in rDNA copy number is a common response to environmental change, rDNA copy number is not necessarily a property of a species. Variation in rDNA copy number, especially the capacity for large intraspecific changes driven by external cues, complicates analyses of rDNA amplicon sequence data. We highlight the need to (i) interpret amplicon sequence data in light of possible interspecific and intr…