Results 71 to 80 of about 18,851,748 (235)

Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions

Plants, 2023
High-throughput chromosome conformation capture (Hi-C) is widely used for scaffolding in de novo assembly because it produces highly contiguous genomes, but its indirect statistical approach can introduce connection errors.
Luca Marcolungo, Leonardo Vincenzi, Matteo Ballottari, Michela Cecchin, Emanuela Cosentino, Thomas Mignani, Antonina Limongi, Irene Ferraris, Matteo Orlandi, Marzia Rossato, Massimo Delledonne   +10 more
doaj   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Single‐Cell Hi‐C Technologies and Computational Data Analysis

Advanced Science
Single‐cell chromatin conformation capture (scHi‐C) techniques have evolved to provide significant insights into the structural organization and regulatory mechanisms in individual cells.
Madison A Dautle, Yong Chen
doaj   +1 more source

Learning Micro-C from Hi-C with diffusion models.

PLoS Computational Biology
In the last few years, Micro-C has shown itself as an improved alternative to Hi-C. It replaced the restriction enzymes in Hi-C assays with micrococcal nuclease (MNase), resulting in capturing nucleosome resolution chromatin interactions.
Tong Liu, Hao Zhu, Zheng Wang
doaj   +1 more source

Integrative characterization of G-Quadruplexes in the three-dimensional chromatin structure

Epigenetics, 2019
DNA molecules are highly compacted in the eukaryotic nucleus where distal regulatory elements reach their targets through three-dimensional chromosomal interactions.
Yue Hou, Fuyu Li, Rongxin Zhang, Sheng Li, Hongde Liu, Zhaohui S. Qin, Xiao Sun   +6 more
doaj   +1 more source

Hi-PACE/hipace: v22.11

, 2022
Dependencies AMReX: release 22.11 openPMD-api: release 0.14.5 What's Changed Fix enforcePeriodic call for AMReX PR 2950 by @atmyers in https://github.com/Hi-PACE/hipace/pull/794 Multigrid smoother by @WeiqunZhang in https://github.com/Hi-PACE/hipace ...
Lehe, Remi, Sinn, Alexander, Diederichs, Severin, Zhang, Weiqun, Huebl, Axel, Myers, Andrew, Thévenet, Maxence   +6 more
core   +1 more source

Safety and Efficacy of GLP‐1 Receptor Agonists in Adults With Epilepsy, Obesity, and Type 2 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Managing obesity in patients with epilepsy is complicated by the weight‐gaining properties of essential antiseizure medications (ASMs) such as valproate and pregabalin. We evaluated the safety and efficacy of initiating glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) in this population.
Hyoshin Son, Inyoung Hwang, Sang Won Lee, Yun Kim   +3 more
wiley   +1 more source

Detecting community structures in Hi-C genomic data [PDF]

2016 Annual Conference on Information Science and Systems (CISS), 2016
Community detection (CD) algorithms are applied to Hi-C data to discover new communities of loci in the 3D conformation of human and mouse DNA. We find that CD has some distinct advantages over pre-existing methods: (1) it is capable of finding a variable number of communities, (2) it can detect communities of DNA loci either adjacent or distant in the
Irineo Cabreros, Emmanuel Abbe, Aristotelis Tsirigos   +2 more
openaire   +2 more sources

8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness

BMC Urology, 2020
Background The four most commonly-mutated genes in clear cell renal cell carcinoma (ccRCC) tumors are BAP1, PBRM1, SETD2 and VHL. And, there are currently 14 known RCC germline variants that have been reproducibly shown to be associated with RCC risk ...
Jeanette E. Eckel-Passow, Huihuang Yan, Matthew L. Kosel, Daniel Serie, Paul A. Decker, Robert B. Jenkins, Brian Costello, Bradley Leibovich, Thai H. Ho, Alexander Parker   +9 more
doaj   +1 more source