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The complete sequence of a human Y chromosome

We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.

Arang Rhie
Sergey Nurk
Adam M. Phillippy
Research23 Aug 2023
Nature

Volume: 621, P: 344-354
Epigenetically regulated digital signaling defines epithelial innate immunity at the tissue level

Fine tuning the immune response in line with the degree of threat is central to recognition of a pathogen versus commensal bacteria. Here the authors implicate a digital all-or-nothing cell response in control of the tissue level immune response.

Helen R. Clark
Connor McKenney
Sergi Regot
ResearchOpen Access23 Mar 2021
Nature Communications

Volume: 12, P: 1-13
Telomere-to-telomere assembly of a complete human X chromosome

High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

Karen H. Miga
Sergey Koren
Adam M. Phillippy
ResearchOpen Access14 Jul 2020
Nature

Volume: 585, P: 79-84
Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing

Using nanopore sequencing as readout, nanoNOMe–seq enables chromosome-level allele-specific profiles of CpG methylation and chromatin accessibility on human cells, in which the chromatin accessibility is profiled through exogenous GpC methylation introduced by a GpC methyltransferase.

Isac Lee
Roham Razaghi
Winston Timp
Research23 Nov 2020
Nature Methods

Volume: 17, P: 1191-1199