Long-read human genome sequencing and its applications

GA Logsdon, MR Vollger, EE Eichler - Nature Reviews Genetics, 2020 - nature.com
Over the past decade, long-read, single-molecule DNA sequencing technologies have
emerged as powerful players in genomics. With the ability to generate reads tens to …

The molecular landscape of head and neck cancer

CR Leemans, PJF Snijders, RH Brakenhoff - Nature Reviews Cancer, 2018 - nature.com
Head and neck squamous cell carcinomas (HNSCCs) arise in the mucosal linings of the
upper aerodigestive tract and are unexpectedly heterogeneous in nature. Classical risk …

H3K4me1 facilitates promoter-enhancer interactions and gene activation during embryonic stem cell differentiation

N Kubo, PB Chen, R Hu, Z Ye, H Sasaki, B Ren - Molecular Cell, 2024 - cell.com
Histone H3 lysine 4 mono-methylation (H3K4me1) marks poised or active enhancers.
KMT2C (MLL3) and KMT2D (MLL4) catalyze H3K4me1, but their histone methyltransferase …

Histone lysine methyltransferases in biology and disease

D Husmann, O Gozani - Nature structural & molecular biology, 2019 - nature.com
The precise temporal and spatial coordination of histone lysine methylation dynamics across
the epigenome regulates virtually all DNA-templated processes. A large number of histone …

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord, DJ McMullan, RY Eberhardt, G Rinck… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Roles and regulation of histone methylation in animal development

A Jambhekar, A Dhall, Y Shi - Nature reviews Molecular cell biology, 2019 - nature.com
Histone methylation can occur at various sites in histone proteins, primarily on lysine and
arginine residues, and it can be governed by multiple positive and negative regulators, even …

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

MH Wojcik, CM Reuter, S Marwaha… - The American Journal of …, 2023 - cell.com
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

The interplay between DNA and histone methylation: molecular mechanisms and disease implications

Y Li, X Chen, C Lu - EMBO reports, 2021 - embopress.org
Methylation of cytosine in CpG dinucleotides and histone lysine and arginine residues is a
chromatin modification that critically contributes to the regulation of genome integrity …

Reevaluating the roles of histone-modifying enzymes and their associated chromatin modifications in transcriptional regulation

MAJ Morgan, A Shilatifard - Nature genetics, 2020 - nature.com
Histone-modifying enzymes are implicated in the control of diverse DNA-templated
processes including gene expression. Here, we outline historical and current thinking …

Genomics of disease risk in globally diverse populations

D Gurdasani, I Barroso, E Zeggini… - Nature Reviews …, 2019 - nature.com
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …