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When was the human genome mapped3/19/2023 ![]() ![]() These sequences are difficult to study, and many genomic analyses exclude them to avoid identifying false variants and false regulatory relationships. Furthermore, GRCh38 possesses 11.5 Mbp of unplaced and unlocalized sequences that are represented outside of the primary chromosomes. Most immediately, GRCh38 contains more than 100 million nucleotides that either remain entirely unresolved (āNā characters), such as the p-arms of the acrocentric chromosomes, or are represented with artificial models, such as the centromeric satellite arrays. However, despite decades of effort to construct and refine its sequence, the human reference genome suffers from several major limitations that hinder comprehensive analysis. The current human reference genome, GRCh38, is used for countless applications, with rich resources available to visualize and annotate the sequence across cell types and disease states. Consequently, human genetics and genomics benefit tremendously from the availability of a high-quality reference genome, ideally without gaps or errors that may obscure important variation and regulatory relationships. Even when the donor genomes are assembled de novo, independent of any reference genome, the assembled sequences will nearly always be compared to a reference genome to characterize variation by leveraging the deep catalog of available annotations. ![]() More than one million human genomes have been sequenced to study genetic diversity and clinical relationships, and nearly all of them have been analyzed by aligning the sequencing reads from the donors to the reference genome, e.g. One of the central applications of the human reference genome, and reference genomes in general, has been to serve as a substrate for clinical genomics, comparative analyses, and population genomics. For the past twenty years, the human reference genome has served as the bedrock of human genetics and genomics.
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