Results 21 to 30 of about 4,090,293 (192)

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

Detection of second-order nonlinear optical magnetization by mapping normalized Stokes parameters [PDF]

, 2013
A measurable magnetic (nonlocal) contribution to the second harmonic generation (SHG) of nonmagnetic materials is an intriguing issue related to chiral materials, such as biomolecules.
Larciprete, Maria Cristina, Váró, György, Leahu Gregory, Sibilia, Concita, Gergely, Csilla, SIBILIA, Concetta, Fabio Antonio Bovino, Bovino, Fabio Antonio, Gyorgy Varo, Leahu, Gregory, Csilla Gergely, LEAHU, GRIGORE   +11 more
core   +2 more sources

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, Anna Bekő, Csaba Bödör, Péter Urbán, Krisztina Németh, Kinga Hadzsiev, György Fekete, Hildegard Kehrer-Sawatzki, Judit Bene   +8 more
openaire   +2 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, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing   +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, Mihael Rogac, Anja Kovanda, Anja Kovanda, Luca Lovrečić, Luca Lovrečić, Borut Peterlin, Borut Peterlin   +7 more
doaj   +1 more source

Proof of principle for shotgun DNA mapping by unzipping [PDF]

, 2009
Ability to map polymerases and nucleosomes on chromatin is important for understanding the impact of chromatin remodeling on key cellular processes. Current methods (such as ChIP and ChIP-chip) have produced a wealth of information that demonstrates ...
Steven J. Koch, Herskowitz, Lawrence J., Steven Koch, Linh Le, Salvagno, Anthony L., Anthony L. Salvagno, R. Andy Maloney, Le, Linh, Linh N. Le, Lawrence J. Herskowitz, Anthony Salvagno, Koch, Steven J., Lawrence Herskowitz   +12 more
core   +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, Danielle Sapir, Tahir Detinis Zur, Nir Weinberger, Yonatan Belinkov, Yuval Ebenstein, Yoav Shechtman   +6 more
openaire   +2 more sources

Addition of the microchromosome GGA25 to the chicken genome sequence assembly through radiation hybrid and genetic mapping [PDF]

, 2008
BACKGROUND: The publication of the first draft chicken sequence assembly became available in 2004 and was updated in 2006. However, this does not constitute a definitive and complete sequence of the chicken genome, since the microchromosomes are ...
Gourichon, David, Dawson, D.A., Deborah A. Dawson (7630160), Gourichon David, Burke, T., F. Vignoles (7630163), Pitel, F., Burke, Terry, Douaud, Marine,, Dawson Deborah A, Olivier Hanotte (89422), Vignoles, Florence, F., Hanotte, Olivier, M. Douaud (7630142), Gourichon, D., Vignoles, F., Morisson, Mireille, Morrison, M., F. Pitel (7630175), Fillon, Valérie, Vignoles Florence, Fillon, V., D. Gourichon (7630157), Gerus, M., M. Tixier-Boichard (7630169), Dawson, D., Bardes, Suzanne, Vignal Alain, Vignoles, Florence,, Fève Katia, Hanotte, O., Vignoles, Florence, S. Bardes (7630154), Bardes Suzanne, Douaud, M., Gerus Marie, Tixier-Boichard, M., K. Fève (7630145), Terry Burke (80052), Vignal, Alain, Bardes, S., Fève, Katia, Pitel, Frédérique, Dawson, Deborah A., Hanotte, Olivier H., Feve, Katia, K., V. Fillon (7630151), Morisson, M., Douaud, Marine, Morisson Mireille, Tixier-Boichard Michèle, Fillon Valérie, M. Gerus (7630148), Douaud Marine, Tixier-Boichard, Michèle, Douaud, Marine, M., Hanotte Olivier, A. Vignal (7630172), M. Morisson (7630166), Dawson, Deborah A, Pitel Frédérique, Gerus, Marie, Feve, Katia,, Vignal, A., Burke Terry, Fève, K.   +65 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
openaire   +2 more sources

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, Goldstein Steve, Mendelowitz Lee, Zhou Shiguo, Wetzel Joshua, Schwartz David C, Pop Mihai   +6 more
doaj   +1 more source