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Sequencing Techniques

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"Unlocking the Power of DNA: From Mapping the Human Genome to Tracing Your Family Tree"

Originally Published 2 years ago — by IFLScience

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Source: IFLScience

The first fully complete human genome with no gaps has been made available to the public after 20 years of work by the Telomere-2-Telomere Consortium. The new genome added 99 genes likely to code for proteins and 2,000 candidate genes that were previously unknown. The genome was created using two modern sequencing techniques, called Oxford Nanopore and PacBio HiFi ultra-long read sequencing, which massively increases the length of DNA that can be read while also improving the accuracy. The consortium hopes to add even more reference genomes as part of the Human Pangenome Reference Consortium to improve diversity in human genetics.