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  2. Human genetic variation - Wikipedia

    en.wikipedia.org/wiki/Human_genetic_variation

    The Human Genome Project was a landmark genome project. There are numerous related projects that deal with genetic variation (or variation in the encoded proteins), e.g. organized by the following organizations: HUman Genome Organisation (HUGO) -- organizes activities around human genome sequencing, including variants

  3. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    In the human genome project the human genome was successfully sequenced, which provided a reference human genome for comparison of genetic variation. With improving sequencing technologies and the reference genome, more and more variations were found of several different sizes that were larger than 1 kb but smaller than microscopic variants.

  4. Human genome - Wikipedia

    en.wikipedia.org/wiki/Human_genome

    Researchers published the first sequence-based map of large-scale structural variation across the human genome in the journal Nature in May 2008. [ 80 ] [ 81 ] Large-scale structural variations are differences in the genome among people that range from a few thousand to a few million DNA bases; some are gains or losses of stretches of genome ...

  5. GWAS Central - Wikipedia

    en.wikipedia.org/wiki/GWAS_Central

    The Human Genome Bi-Allelic SEquence database [1] was the first version of what is now GWAS Central. [2] It was first released in August 1998, focusing on providing a centralized collection of known human single nucleotide polymorphisms and other simple DNA variants. It was the first publicly available SNP database.

  6. 1000 Genomes Project - Wikipedia

    en.wikipedia.org/wiki/1000_Genomes_Project

    Furthermore, the samples do not need to have medical or phenotype information since the proposed catalogue will be a basic resource on human variation. [15] For the pilot studies human genome samples from the HapMap collection will be sequenced. It will be useful to focus on samples that have additional data available (such as ENCODE sequence ...

  7. Human Pangenome Reference - Wikipedia

    en.wikipedia.org/wiki/Human_Pangenome_Reference

    The new human pangenome reference integrates the missing 8% of the human genome sequence, adding over 100 million new bases. It aims to capture more population diversity than the previous reference sequence and is based on 94 high-quality haploid assemblies from individuals with broad genetic diversity.