Results 31 to 40 of about 38,693 (276)
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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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
openaire +2 more sources
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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Error correcting optical mapping data [PDF]
, 2018 Optical mapping is a unique system that is capable of producing high-resolution, high-throughput genomic map data that gives information about the structure of a genome .
Mukherjee, Kingshuk +9 more
core +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
A BioNano optical mapping-assisted chromosomal genome assembly of Diospyros oleifera
, 2022 A BioNano optical mapping-assisted chromosomal genome assembly of Diospyros oleifera
PENG SUN (12896096) +1 more
core +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
, 2023 Contains fulltext : 305941.pdf (Publisher’s version ) (Closed access)BACKGROUND: Genome Mapping Technologies (optical and electronic) use ultra-high molecular weight DNA to detect structural variation and have application in ...
McGowan-Jordan, J. +8 more
core +1 more source