The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
… T2T-CHM13 includes gapless telomere-to-telomere assemblies for all 22 human
autosomes and chromosome X, comprising 3,054,815,472 bp of nuclear DNA, plus a 16,569-bp …

The complete sequence of a human Y chromosome

A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor… - Nature, 2023 - nature.com
… Y chromosome is missing from the GRCh38 reference sequence and it remains the last human
chromosome … -base-pair sequence of a human Y chromosome from the HG002 genome (…

[HTML][HTML] Telomere-to-telomere assembly of a complete human X chromosome

KH Miga, S Koren, A Rhie, MR Vollger, A Gershman… - Nature, 2020 - nature.com
… Here we present a human genome assembly … human genome is now within reach, and the
data presented here will facilitate ongoing efforts to complete the other human chromosomes. …

Epigenetic patterns in a complete human genome

A Gershman, MEG Sauria, X Guitart, MR Vollger… - Science, 2022 - science.org
… the human genome in which we explore previously unresolved regions, including acrocentric
chromosome short … BOLBA2B, one of the most common genes associated with autism (22). …

The structure, function and evolution of a complete human chromosome 8

GA Logsdon, MR Vollger, PH Hsieh, Y Mao… - Nature, 2021 - nature.com
… First, long-read sequence read-depth analysis from two orthogonal native DNA sequencing
… euchromatic variant 22 that contains one of the largest VNTRs in the human genome …

Sequence, chromatin and evolution of satellite DNA

J Thakur, J Packiaraj, S Henikoff - International journal of molecular …, 2021 - mdpi.com
… Here we describe the different classes of satellite DNA sequences, their satellite-specific …
of two copies of T2A5T octanucleotide alternating with 22-bp units of an inverted repeat. …

Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing

AV Anzalone, XD Gao, CJ Podracky, AT Nelson… - Nature …, 2022 - nature.com
… replacement or excision of DNA sequences at endogenous human genomic sites. The …
DNA flaps on opposing strands of genomic DNA, which replace the endogenous DNA sequence

DNA methylation-calling tools for Oxford Nanopore sequencing: a survey and human epigenome-wide evaluation

Y Liu, W Rosikiewicz, Z Pan, N Jillette, P Wang… - Genome biology, 2021 - Springer
… To translate raw signal data into nucleotide sequences, we conducted the basecalling step
using Guppy (v4.2.2). Then we used NanoPack [52] for data visualization and processing, to …

A practical guide to cancer subclonal reconstruction from DNA sequencing

M Tarabichi, A Salcedo, AG Deshwar… - Nature …, 2021 - nature.com
… using bulk DNA sequencing data, which … chromosome 22 logR before (top) and after G+C
and replication timing correction (bottom). b, logR and BAF reflect relative allele-specific DNA

IL-10 and IL-22 in mucosal immunity: driving protection and pathology

HX Wei, B Wang, B Li - Frontiers in Immunology, 2020 - frontiersin.org
… IL-22 was first identified by Renauld et al. in IL-9-stimulated murine T cells (12). Murine IL-22
gene is localized on chromosome 10 while human IL-22 gene is located on chromosome