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Updated: Apr 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Development of genomic resources for Nothofagus species using next-generation sequencing data
V A El Mujtar1, L A Gallo, T Lang
1Unidad de Genética Ecológica y Mejoramiento Forestal, Instituto Nacional de Tecnología Agropecuaria (INTA) EEA Bariloche, Modesta Victoria, 4450 (8400), Bariloche, Río Negro, Argentina; INRA, UMR 1202 Biodiversity Genes & Communities, F- 33610, Cestas, France; UMR1202 Biodiversity Genes & Communities, University of Bordeaux, Bordeaux, F-33400, Talence, France.
We generated the first whole-genome resources for two Nothofagus species, identifying novel genes and genetic markers. These genomic tools aid conservation and understanding of Patagonian forest dynamics.
Area of Science:
- Genomics
- Forest Ecology
- Conservation Biology
Background:
- Nothofagus species are ecologically and industrially significant but lack genomic data.
- Understanding their genetic diversity is crucial for conservation and management.
Purpose of the Study:
- To develop the first whole-genome resources for two hybridizing Nothofagus species.
- To identify novel genes, genetic markers, and assess genomic variation.
Main Methods:
- Next-generation sequencing and de novo assembly strategy.
- Chloroplast and mitochondrial genome assembly and annotation.
- Development and validation of single nucleotide polymorphism (SNP) and simple sequence repeat (SSR) markers.
Main Results:
- Generated ~32,000 contigs, covering significant portions of chloroplast (~96%) and mitochondrial (~70%) genomes.
- Identified ~1750 potentially novel nuclear genes and developed a high-quality SNP resource.
- Characterized 2274 SSR loci, with 8 SSRs efficiently discriminating species and 3 transferable to related species.
Conclusions:
- The developed genomic resources are foundational for future studies on Nothofagus population genetics, adaptation, and hybridization.
- These resources will significantly aid in the conservation and management of Nothofagus populations.
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