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Long-read human genome sequencing and its applications
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 …
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 …
upper aerodigestive tract and are unexpectedly heterogeneous in nature. Classical risk …
H3K4me1 facilitates promoter-enhancer interactions and gene activation during embryonic stem cell differentiation
Histone H3 lysine 4 mono-methylation (H3K4me1) marks poised or active enhancers.
KMT2C (MLL3) and KMT2D (MLL4) catalyze H3K4me1, but their histone methyltransferase …
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 …
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 …
range of genetic causes, including chromosomal aneuploidy, copy number variations …
Roles and regulation of histone methylation in animal development
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 …
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
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 …
(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
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 …
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
Histone-modifying enzymes are implicated in the control of diverse DNA-templated
processes including gene expression. Here, we outline historical and current thinking …
processes including gene expression. Here, we outline historical and current thinking …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
cultural, environmental and genetic factors. Our understanding of the genetic determinants …