Results 11 to 20 of about 184,715 (310)

Optical Genome Mapping ( OGM) : Looking beyond karyotyping

Asian Journal of Medical Sciences
Optical genome mapping (OGM) is an advanced technology that delivers a distinct view of genome structure. It presents numerous benefits compared to conventional sequencing techniques, as well as karyotyping in identifying large-scale structural ...
Ruby Dhar , Arun Kumar , Subhradip Karmakar   +2 more
doaj   +3 more sources

Optical map guided genome assembly [PDF]

BMC Bioinformatics, 2020
Background The long reads produced by third generation sequencing technologies have significantly boosted the results of genome assembly but still, genome-wide assemblies solely based on read data cannot be produced.
Miika Leinonen, Leena Salmela
doaj   +4 more sources

Advances in optical mapping for genomic research

Computational and Structural Biotechnology Journal, 2020
Recent advances in optical mapping have allowed the construction of improved genome assemblies with greater contiguity. Optical mapping also enables genome comparison and identification of large-scale structural variations.
Yuxuan Yuan, Claire Yik-Lok Chung, Ting-Fung Chan   +2 more
doaj   +3 more sources

Optical mapping discerns genome wide DNA methylation profiles [PDF]

BMC Molecular Biology, 2008
BACKGROUND: Methylation of CpG dinucleotides is a fundamental mechanism of epigenetic regulation in eukaryotic genomes. Development of methods for rapid genome wide methylation profiling will greatly facilitate both hypothesis and discovery driven ...
Chris P Churas, Dan K Forrest, David C Schwartz, Gene E Ananiev, James A Thomson, Konstantinos Potamousis, Rod Runnheim, Shiguo Zhou, Steve Goldstein, Veit Bergendahl   +9 more
core   +5 more sources

Validation of rice genome sequence by optical mapping [PDF]

BMC Genomics, 2007
Background Rice feeds much of the world, and possesses the simplest genome analyzed to date within the grass family, making it an economically relevant model system for other cereal crops. Although the rice genome is sequenced, validation and gap closing
Pape Louise, Churas Chris P, Place Michael, Bechner Michael C, Zhou Shiguo, Leong Sally A, Runnheim Rod, Forrest Dan K, Goldstein Steve, Livny Miron, Schwartz David C   +10 more
doaj   +3 more sources

TelOMpy enables single-molecule resolution of telomere length from optical genome mapping data. [PDF]

BMC Biol
The existing methods for assessing telomere length are limited in various ways, including resolution, scope, throughput, and reproducibility. These limitations stem from the applicability of laborious and complicated indirect approaches.
Pokrovac I, Stipoljev S, Pezer Ž.
europepmc   +2 more sources

Rapid whole genome optical mapping of Plasmodium falciparum [PDF]

Malaria Journal, 2011
Background Immune evasion and drug resistance in malaria have been linked to chromosomal recombination and gene copy number variation (CNV). These events are ideally studied using comparative genomic analyses; however in malaria these analyses are not as
Johnson Jake D, Kirkup Benjamin C, Riley Matthew C, Lesho Emil P, Ockenhouse Christian F   +4 more
doaj   +3 more sources

Optical genome mapping enables accurate testing of large repeat expansions. [PDF]

Genome Res
Short tandem repeats (STRs) are common variations in human genomes that frequently expand or contract, causing genetic disorders, mainly when expanded.
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A.   +20 more
europepmc   +2 more sources

Analysis of complex chromosomal structural variants through optical genome mapping integrated with karyotyping. [PDF]

Front Genet
Background and Objective Parental chromosomal structural variations (SVs) represent a primary genetic factor contributing to recurrent spontaneous abortion (RSA). Individuals carrying SVs with complex chromosomal rearrangements (CCRs) typically exhibit a
Zhu X, Zheng H, Wan X, Duan H, Qi Y, Tang W, Yang F, Yu L.   +7 more
europepmc   +2 more sources

Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies. [PDF]

Mov Disord
Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next ...
Cogan G, Daida K, Blauwendraat C, Billingsley K, Brice A.   +4 more
europepmc   +2 more sources