Results 21 to 30 of about 38,693 (276)

Optical genome mapping reveals complex cytogenetic abnormalities in multiple myeloma [PDF]

Haematologica
Not available.
Jorge A. Palacios, Mónica Bernal, Jose R. Vílchez, Pilar Garrido, Pilar Jiménez, Juan F. Gutiérrez-Bautista, María C. Barrera-Aguilera, Lucía Ballesta, Teresa Rodríguez, María J. Olivares-Durán, Francisco Ruiz-Cabello   +10 more
doaj   +2 more sources

Optical Genome Mapping Reveals Genomic Alterations upon Gene Editing in hiPSCs: Implications for Neural Tissue Differentiation and Brain Organoid Research

Cells
Genome editing, notably CRISPR (cluster regularly interspaced short palindromic repeats)/Cas9 (CRISPR-associated protein 9), has revolutionized genetic engineering allowing for precise targeted modifications.
Lucia Gallego Villarejo, Wanda M. Gerding, Lisa Bachmann, Luzie H. I. Hardt, Stefan Bormann, Huu Phuc Nguyen, Thorsten Müller   +6 more
doaj   +2 more sources

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping [PDF]

Orphanet Journal of Rare Diseases
Background Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation (ROHHAD) and neuroendocrine tumor (NET) is a very rare condition with an unknown etiology. While various potential causes have been hypothesized, including
N. van Engelen, H. M. van Santen, F. van Dijk, M. M. Kleisman, J. H.M. Merks, A. Y.N. Schouten-van Meeteren, E. J. Kamping, K. Neveling, A. Hoischen, M. C.J. Jongmans, R. P. Kuiper   +10 more
doaj   +2 more sources

A chromosome-scale assembly of the sorghum genome using nanopore sequencing and optical mapping

Nature Communications, 2018
Assembly of large, repeat-rich eukaryotic genomes remains challenging. Here, the authors use BioNano Genomics DLS optical mapping and single-molecule nanopore sequencing to generate a chromosome-scale assembly of a new Sorghum bicolor accession and ...
Stéphane Deschamps, Yun Zhang, Victor Llaca, Liang Ye, Abhijit Sanyal, Matthew King, Gregory May, Haining Lin   +7 more
doaj   +2 more sources

Optical mapping in plant comparative genomics [PDF]

GigaScience, 2015
Optical mapping has been widely used to improve de novo plant genome assemblies, including rice, maize, Medicago, Amborella, tomato and wheat, with more genomes in the pipeline. Optical mapping provides long-range information of the genome and can more easily identify large structural variations.
Tang, Haibao, Lyons, Eric, Town, Christopher D   +2 more
openaire   +2 more sources

Optical Whole-Genome Restriction Mapping as a Tool for Rapidly Distinguishing and Identifying Bacterial Contaminants in Clinical Samples [PDF]

Journal of Clinical and Diagnostic Research, 2015
Introduction: Optical restriction genome mapping is a technology in which a genome is linearized on a surface and digested with specific restriction enzymes, giving an arrangement of the genome with gaps whose order and size are unique for a given ...
Richard R. Chapleau, James C. Baldwin
doaj   +1 more source

Multiplex structural variant detection by whole-genome mapping and nanopore sequencing

Scientific Reports, 2022
Identification of structural variants (SVs) breakpoints is important in studying mutations, mutagenic causes, and functional impacts. Next-generation sequencing and whole-genome optical mapping are extensively used in SV discovery and characterization ...
Lahari Uppuluri, Yilin Wang, Eleanor Young, Jessica S. Wong, Heba Z. Abid, Ming Xiao   +5 more
doaj   +1 more source

OMGS: Optical Map-based Genome Scaffolding [PDF]

Journal of Computational Biology, 2019
Abstract Due to the current limitations of sequencing technologies, de novo genome assembly is typically carried out in two stages, namely contig (sequence) assembly and scaffolding.
Weihua Pan, Tao Jiang 0001, Stefano Lonardi   +2 more
openaire   +4 more sources

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes [PDF]

, 2022
Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is higher ...
Weisschuh, Nicole, Plomp, Astrid S., Neveling, Kornelia, Farrar, G. Jane, Roosing, Susanne, Hoischen, Alexander, Rodenburg, Kim, Berger, Wolfgang, Cremers, Frans P. M., Weener, Marianna E., Kremer, Hannie, Ben-Yosef, Tamar, Sharon, Dror, Ferenc Kovács, Árpád, Nelen, Marcel R., de Bruijn, Suzanne E., Vissers, Lisenka E. L. M., Haer-Wigman, Lonneke, Corominas, Jordi, Fajardy, Isabelle, Pennings, Ronald J. E., van den Born, L. Ingeborgh, Whelan, Laura, Gilissen, Christian, Hitti-Malin, Rebekkah J., Hoyng, Carel B., Reurink, Janine   +26 more
core   +2 more sources

A Gene-Based Method for Cytogenetic Mapping of Repeat-Rich Mosquito Genomes

Insects, 2021
Long-read sequencing technologies have opened up new avenues of research on the mosquito genome biology, enabling scientists to better understand the remarkable abilities of vectors for transmitting pathogens.
Reem A. Masri, Dmitriy A. Karagodin, Atashi Sharma, Maria V. Sharakhova   +3 more
doaj   +1 more source