Results 91 to 100 of about 11,679 (258)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Genome of the world’s smallest flowering plant, Wolffia australiana, helps explain its specialized physiology and unique morphology

Communications Biology, 2021
Halim Park and Jin Hwa Park et al. report the nuclear genome sequence of the duckweed Wolffia australiana, the smallest known flowering plant. The genome assembly represents an improvement over a recently published genome and highlights genome ...
Halim Park, Jin Hwa Park, Yejin Lee, Dong U Woo, Ho Hwi Jeon, Yeon Woo Sung, Sangrea Shim, Sang Hee Kim, Kyun Oh Lee, Jae-Yean Kim, Chang-Kug Kim, Debashish Bhattacharya, Hwan Su Yoon, Yang Jae Kang   +13 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

PLoS ONE, 2018
The detection of recurrent somatic chromosomal rearrangements is standard of care for most leukemia types. Even though karyotype analysis-a low-resolution genome-wide chromosome analysis-is still the gold standard, it often needs to be complemented with ...
Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany   +10 more
doaj   +1 more source

Evaluating genome dynamics: the constraints on rearrangements within bacterial genomes

, 2000
Inversions and translocations distinguish the genomes of closely related bacterial species, but most of these rearrangements preserve the relationship between the rearranged fragments and the axis of chromosome replication.
Hughes, Diarmaid,
core   +1 more source

Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability [PDF]

, 2012
Whole-genome sequencing using massively parallel sequencing technologies enables accurate detection of somatic rearrangements in cancer. Pinpointing large numbers of rearrangement breakpoints to base-pair resolution allows analysis of rearrangement ...
Lander, Eric Steven, Lawrence, Michael S., Stewart, Chip, Gabriel, Stacey B., Drier, Yotam, Meyerson, Matthew L., Beroukhim, Rameen, Getz, Gad, Carter, Scott L.   +8 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Phylogenetic analysis based on single-copy orthologous proteins in highly variable chloroplast genomes of Corydalis

Scientific Reports, 2022
Corydalis is one of the few lineages that have been reported to have extensive large-scale chloroplast genome (cp-genome) rearrangements. In this study, novel cp-genome rearrangements of Corydalis pinnata, C. mucronate, and C. sheareri are described.
Xianmei Yin, Feng Huang, Xiaofen Liu, Jiachen Guo, Ning Cui, Conglian Liang, Yan Lian, Jingjing Deng, Hao Wu, Hongxiang Yin, Guihua Jiang   +10 more
doaj   +1 more source

Genome rearrangement with gene families [PDF]

Bioinformatics, 1999
Abstract Motivation: The theory and practice of genome rearrangement analysis breaks down in the biologically widespread contexts where each gene may be present in a number of copies, not necessarily contiguous. In some of these contexts it is, however, appropriate to ask which members of each gene family in two genomes G and H, lengths ...
openaire   +2 more sources

Swelling‐Programmed Topographical Guidance for Dynamic Spheroid Self‐Assembly via a Mechanochemical Hydrogel Niche

Advanced Functional Materials, EarlyView.
A swelling‐programmed micropatterned hydrogel guides adherent cells through a controlled transition from cell–matrix anchoring to cadherin‐mediated cell–cell compaction, enabling rapid assembly of high‐viability spheroids with defined size and morphology.
Han Gyeol Nam, Seon Yeong Chae, Young Woo Kwon, Hye Jin Heo, Hye Rin Lee, Ji Hyeok Lee, Dong‐Wook Han, Yun Hak Kim, Suck Won Hong   +8 more
wiley   +1 more source