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Biodiversity: an atlas of European reference genomes
Nature, 2023The 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
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Quantifying the effect of reference genome choice
Nature Reviews Genetics, 2021A 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.
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Goodbye reference, hello genome graphs
Nature Biotechnology, 2019Algorithms for building a variant-aware human graph genome enable fast and accurate genotyping without huge memory requirements.
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Mapping Contigs onto Reference Genomes
2007This work presents a preliminary comparative study of some tools for mapping annotated contigs onto a close-related complete annotated genome. This kind of mapping could help scientists in generating additional sequences to fill in gaps in finishing genome projects, or even in getting relevant functional information, specially when annotations of the ...
Nalvo F. Almeida +7 more
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Origin matters: Using a local reference genome improves measures in population genomics
Molecular Ecology Resources, 2023Doko-Miles J Thorburn +2 more
exaly
T2T-YAO: A Telomere-to-Telomere Assembled Diploid Reference Genome for Han Chinese
Genomics, Proteomics and Bioinformatics, 2023Yukun He, Yanan Chu, Shuming Guo
exaly