Results 21 to 30 of about 37,830 (248)
Identification of an NF1 Microdeletion with Optical Genome Mapping
International Journal of Molecular Sciences, 2023 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5–10% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical manifestations, can be subclassified into four different types (
Gergely Büki +8 more
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Optical Genome Mapping: A New Tool for Cytogenomic Analysis. [PDF]
Genes (Basel)Background/Objectives: Optical genome mapping (OGM) has recently emerged as a new technology in the clinical cytogenomics laboratories. This methodology has the ability to detect balanced and unbalanced structural rearrangements using ultra-high molecular weight DNA.
Levy B, Burnside RD, Akkari Y.
europepmc +3 more sources
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
HGG Advances, 2021 Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular ...
Zeinab Fadaie +15 more
doaj +1 more source
Optical genome mapping in an atypical Pelizaeus-Merzbacher prenatal challenge
Frontiers in Genetics, 2023 Pathogenic genetic variants represent a challenge in prenatal counseling, especially when clinical presentation in familial carriers is atypical. We describe a prenatal case involving a microarray-detected duplication of PLP1 which causes X-linked ...
Mihael Rogac +7 more
doaj +1 more source
OM2Seq: Learning retrieval embeddings for optical genome mapping
Bioinformatics Advances, 2023 Abstract Motivation Genomics-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.
Yevgeni Nogin +6 more
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Optical mapping approaches to molecular genomics
Current Opinion in Biotechnology, 1997 A variety of physical mapping methods exist for the analysis of nucleic acids or genomes, including hybridization, sequence tagged site mapping, restriction enzyme fingerprinting, radiation hybrid mapping and optical mapping. Single-molecule approaches offer numerous advantages, including very high resolution, small sample size requirements, and ...
D C, Schwartz, A, Samad
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Optical mapping as a routine tool for bacterial genome sequence finishing
BMC Genomics, 2007 Background In sequencing the genomes of two Xenorhabdus species, we encountered a large number of sequence repeats and assembly anomalies that stalled finishing efforts.
Gaudriault Sophie +13 more
doaj +1 more source
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 +10 more
doaj +1 more source
AGORA: Assembly Guided by Optical Restriction Alignment
BMC Bioinformatics, 2012 Background Genome assembly is difficult due to repeated sequences within the genome, which create ambiguities and cause the final assembly to be broken up into many separate sequences (contigs).
Lin Henry C +6 more
doaj +1 more source
nanotatoR: a tool for enhanced annotation of genomic structural variants
BMC Genomics, 2021 Background Whole genome sequencing is effective at identification of small variants, but because it is based on short reads, assessment of structural variants (SVs) is limited. The advent of Optical Genome Mapping (OGM), which utilizes long fluorescently
Surajit Bhattacharya +3 more
doaj +1 more source