Results 31 to 40 of about 184,715 (310)

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

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific Reports
While short-read sequencing currently dominates genetic research and diagnostics, it frequently falls short of capturing certain structural variants (SVs), which are often implicated in the etiology of neurodevelopmental disorders (NDDs).
Isabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, Susanna Öhman, Maria Arvio, Ritva Paetau, Auli Siren, Kristiina Avela, Johanna Granvik, Suzanne M. Leal, Tuomo Määttä, Hannaleena Kokkonen, Irma Järvelä   +12 more
doaj   +2 more sources

Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics. [PDF]

J Med Genet
Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of duplications and balanced structural variants (SV). However,
Dremsek P, Schachner A, Reischer T, Krampl-Bettelheim E, Bettelheim D, Vrabel S, Delissen Z, Pfeifer M, Weil B, Bajtela R, Hengstschläger M, Laccone F, Neesen J.   +12 more
europepmc   +2 more sources

Optical genome mapping enables constitutional chromosomal aberration detection [PDF]

The American Journal of Human Genetics, 2021
Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and the inability to detect balanced SVs or indicate the genomic localization and orientation of duplicated
Tuomo, Mantere, Kornelia, Neveling, Céline, Pebrel-Richard, Marion, Benoist, Guillaume, van der Zande, Ellen, Kater-Baats, Imane, Baatout, Ronald, van Beek, Tony, Yammine, Michiel, Oorsprong, Faten, Hsoumi, Daniel, Olde-Weghuis, Wed, Majdali, Susan, Vermeulen, Marc, Pauper, Aziza, Lebbar, Marian, Stevens-Kroef, Damien, Sanlaville, Jean Michel, Dupont, Dominique, Smeets, Alexander, Hoischen, Caroline, Schluth-Bolard, Laïla, El Khattabi   +22 more
openaire   +3 more sources

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

Acta Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang, Yan Wang, Yiyun Xu, Ran Zhou, Mingtao Huang, Fengchang Qiao, Lulu Meng, An Liu, Jing Zhou, Li Li, Xiuqing Ji, Zhengfeng Xu, Ping Hu   +12 more
doaj   +1 more source

OMGS: Optical Map-based Genome Scaffolding [PDF]

Journal of Computational Biology, 2019
AbstractDue to the current limitations of sequencing technologies,de novogenome assembly is typically carried out in two stages, namely contig (sequence) assembly and scaffolding. While scaffolding is computationally easier than sequence assembly, the scaffolding problem can be challenging due to the high repetitive content of eukaryotic genomes ...
Pan, Weihua, Jiang, Tao, Lonardi, Stefano   +2 more
openaire   +4 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

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

OM2Seq: Learning retrieval embeddings for optical genome mapping

Bioinformatics Advances, 2023
AbstractMotivationGenomics-based diagnostic methods that are quick, precise, and economical are essential for the advancement of precision medicine, with applications spanning the diagnosis of infectious diseases, cancer, and rare diseases. One technology that holds potential in this field is optical genome mapping (OGM), which is capable of detecting ...
Yevgeni Nogin, Danielle Sapir, Tahir Detinis Zur, Nir Weinberger, Yonatan Belinkov, Yuval Ebenstein, Yoav Shechtman   +6 more
openaire   +2 more sources

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