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Reference genomes for conservation

Science, 2022
High-quality reference genomes for non–model species can benefit ...
Sadye, Paez   +16 more
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Beyond the reference genome

Nature Biotechnology, 2015
Both strands of a diploid genome can now be efficiently sequenced de novo, unlocking the diversity of the human gene pool.
Carlos D, Bustamante, Morten, Rasmussen
openaire   +2 more sources

Building and Improving Reference Genome Assemblies [PDF]

open access: yesProceedings of the IEEE, 2017
A genome sequence assembly provides the foundation for studies of genotypic and phenotypic variation, genome structure, and evolution of the target organism. In the past four decades, there has been a surge of new sequencing technologies, and with these developments, computational scientists have developed new algorithms to improve genome assembly ...
Richard K. Wilson   +2 more
exaly   +4 more sources

Building Population-Specific Reference Genomes: A Case Study of Vietnamese Reference Genome

2015 Seventh International Conference on Knowledge and Systems Engineering (KSE), 2015
The human reference genome is an essential tool for studying human genomes. The standard reference genome is constructed from genomes of a few donors. The 1000 genomes project has revealed a huge amount of genetic differences between diverse populations.
Nguyen Dai Thanh   +8 more
openaire   +3 more sources

Crop Genomics Goes Beyond a Single Reference Genome

Trends in Plant Science, 2019
The inadequacy of a single reference genome to capture the full landscape of genetic diversity within a species constrains exploration of genetic variation for crop improvement. A recent study by Yang et al. has demonstrated the value of multiple reference-quality genomes in capturing structural variants and guiding biological discovery.
Tao, Yongfu   +2 more
openaire   +5 more sources

Going beyond a reference genome in conservation genomics

Trends in Ecology & Evolution
The current biodiversity crisis demands scientifically based management. The generation of reference genomes is crucial in conservation, but is not enough to capture species diversity. By incorporating whole-genome sequencing (WGS) at the population level, Nigenda-Morales et al.
Cinta Pegueroles   +2 more
openaire   +2 more sources

The effect of reference species on reference-guided genome assembly

Proceedings of the 8th International Conference on Computational Systems-Biology and Bioinformatics, 2017
The rapid improvement of the next-generation sequencing (NGS) technologies has enabled unprecedented production of huge DNA sequence data at low cost. However, the NGS technologies are still limited to generate short DNA sequences, which has led to the development of many assembly algorithms to recover whole genome sequences from those short sequences.
Juyeon Kim   +4 more
openaire   +2 more sources

Biodiversity: an atlas of European reference genomes

Nature, 2023
The European Reference Genome Atlas (ERGA) aims to coordinate the production of high-quality genome sequences that represent eukaryotic biodiversity in Europe. As part of the Earth BioGenome Project, it will foster the widespread use of genomic resources for biodiversity protection, restoration and conservation.
Camila J. Mazzoni   +2 more
openaire   +3 more sources

Quantifying the effect of reference genome choice

Nature Reviews Genetics, 2021
A study in the American Journal of Human Genetics shows that using the GRCh37 versus GRCh38 version of the human reference genome makes a meaningful difference to the calling of human genetic variants, with implications for research-based and clinical-based human sequencing studies.
openaire   +2 more sources

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