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Explore Complete Sequence of a Human Genome Through NLM’s Open Access Resources and Tools

June 01, 2022

Scientists, researchers, and others interested in exploring the first complete sequence of a human genome, known as T2T-CHM13, can now access and analyze this assembly through the National Library of Medicine’s (NLM) open access data, tools, and resources.

NLM’s National Center for Biotechnology Information (NCBI) maintains the world’s largest database of assembled sequences, GenBank, which now includes the assembled T2T-CHM13 sequence, as well as additional gene annotations. T2T-CHM13, the high-quality, gapless human assembly produced by the Telomere-to-Telomere (T2T) consortium, was also added to NLM’s Reference Sequence (RefSeq) database. Adding T2T-CHM13 to RefSeq with the additional annotations provides a comprehensive, integrated, non-redundant, well-annotated set of sequences that includes genomic DNA, transcripts, and proteins.

The availability of T2T-CHM13 data through open access resources like NLM’s GenBank and RefSeq, along with NLM’s annotations and tools, such as the Basic Local Alignment Search Tool (BLAST), and the Genome Data Viewer (GDV) genome browser, enable the scientific community to explore how this new assembly can be used, how its usage impacts the interpretation of data as compared to the current reference, and what new discoveries it might enable.

Learn more about how to access T2T-CHM13, in NCBI’s Insights Blog.