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From gene editing to protein-structure determination to quantum computing, here are seven technologies that are likely to have an impact on science in the year ahead.
FREMONT, CA: When genomics researchers and the National Human Genome Research Institute in Bethesda, Maryland, formed the Telomere-to-Telomere (T2T) consortium in 2019, around one-tenth of the human genome remained undiscovered. Unfortunately, that number has now been dropped to zero. The team reported the first end-to-end sequence of the human genome in a preprint last year, adding approximately 200 million extra base pairs to the widely used human consensus genome sequence known as GRCh38 and writing the concluding chapter of the Human Genome Project1.
Since its initial publication in 2013, GRCh38 has proven to be a useful tool for mapping sequencing reads. However, it is filled with flaws. mosome.This is largely due to the fact that Illumina's widely utilised sequencing technique, created in San Diego, California, provides accurate but short reads.
They are not long enough to map highly repetitive genomic sequences like telomeres and centromeres, which coordinate the partitioning of freshly duplicated DNA during cell division.
The game-changing technology was long-read sequencing. These technologies, developed by Pacific Biosciences in Menlo Park, California, and Oxford Nanopore Technologies (ONT) in Oxford, UK, can sequence tens or hundreds of thousands of bases in a single read, but not without errors. Pacific Biosciences' sequencing had evolved to the point where T2T scientists could detect minor differences in large sections of repeated sequences. Long repetitive chromosome portions became tractable thanks to these minor 'fingerprints,' and the remainder of the genome followed suit. T2T was able to map these 'epigenetic markers' genome-wide using the ONT technology, which captures various DNA changes that influence gene expression.
T2T solved a genome from a cell line with two sets of chromosomes that are identical. Researchers are now working on 'phasing' algorithms that can accurately assign each sequence to the right chromosome copy in normal diploid human genomes, which include two versions of each chro