Mar 31, 2022 · High-accuracy long-read sequencing has finally removed this technological barrier, enabling comprehensive studies of genomic variation across the entire human genome, which …

In 1998 we announced our intention to build a unique genome- sequencing facility, to determine the sequence of the human genome over a 3-year period. Here we report the penultimate …

Addressing the remaining 8% of the GRCh38 are artificial or are otherwise in-genome, the Telomere-to-Telomere (T2T) Consortium presents a complete 3.055 billion–base pair …

Mar 31, 2022 · This new human reference is poised to have its own substantial impact on genome analysis and represents an important step to assembly models that represent all humans, …

However, genome synthesis is currently impractical for the larger human genome. We used the recently developed prime editing technology to insert recombinase sites into the human …

As a foundation, our work underscores the benefits of an accurate and complete reference genome for revealing diversity across human populations.

Feb 16, 2001 · Science 's News staff tells the history of the quest to sequence the human genome, from Watson and Crick's discovery of the double helical structure of DNA to today's …

Feb 4, 2011 · We published the first individual, diploid human genome sequence in 2007, and now, with single DNA sequencing instruments producing 100 million base pairs per day, …

Nov 5, 2009 · We describe a genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation chemistry to independently …

Our study provides systematic insights into the sequence determinants of transcription initiation in the human genome and beyond as well as a powerful tool for understanding and engineering …