Results 1 to 10 of about 2,137 (173)

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery [PDF]

npj Genomic Medicine
Structural variants (SVs), including duplications, deletions, inversions, translocations, and insertions, play major roles in human phenotypic diversity but remain difficult to detect because of variable size and structural complexity.
Li Fu, Chong Ae Kim, Masatoshi Tokita, Yohane Miyata, Nobuhiko Okamoto, Yoshio Makita, Hitoshi Osaka, Ayataka Fujimoto, Atsuro Daida, Jun Nirei, Noriko Udagawa, Seiichi Hayakawa, Kimiko Deguchi, Mitsumasa Fukuda, Hiroshi Matsumoto, Manami Akasaka, Junichiro Okada, Yohei Misumi, Jun Kido, Toshifumi Suzuki, Hiromi Aoi, Rie Seyama, Haruka Hamanoue, Satomi Mitsuhashi, Sachiko Ohori, Ken Saida, Yuta Inoue, Kohei Hamanaka, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Atsuo Itakura, Naoki Harada, Atsushi Fujita, Naomichi Matsumoto   +36 more
doaj   +2 more sources

A methodological study on the process of prenatal optical genome mapping: focusing on cell culture and quality control [PDF]

Molecular Cytogenetics
Background Optical genome mapping (OGM) has demonstrated significant potential in detecting structural variations (SVs) and has been comprehensively evaluated both retrospectively and prospectively in prenatal diagnosis.
Xueting Yang, Kaili Yin, Mengmeng Li, Jing Zhou, Hanzhe Zhang, Qingwei Qi, Xiya Zhou, Yulin Jiang, Yaru Wang, Na Hao   +9 more
doaj   +2 more sources

Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series [PDF]

European Journal of Medical Research
Objective Cryptic balanced translocations are a challenging diagnostic dilemma in conventional cytogenetics. This study aimed to evaluate the utility of optical genome mapping (OGM), an emerging technology for detecting structural variations, in ...
Xiaohuan Zhang, Yingnan Liao, Li Cao, He Lin, Xuemei Wu, Ling Liao, Chang Tan, Shi Ma, Guo Huang   +8 more
doaj   +2 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

DOM: Dual Optical Mapping Integrating Sequence‐Specific Barcodes and A/T Density Profiles

Small Methods, Volume 10, Issue 16, 25 August 2026.
Dual Optical Mapping (DOM) combines sequence‐specific barcodes and an A/T profile to generate complementary genomic signatures along single DNA molecules. The integration of sparse and dense mapping information enables accurate and confident genome mapping, facilitating reliable localization of long DNA molecules in complex genomes, including the ...
Jaeyoung Bae, Yunchul Kim, Joohee Choe, Jinhui Hong, Byoungsang Lee, Kaori Hashiya, Toshikazu Bando, Hiroshi Sugiyama, Seonghyun Lee, Jung Heon Lee, Kyubong Jo   +10 more
wiley   +1 more source

Rapid dehydration drives a nondiffusional drop in C3 photosynthesis that aligns with phosphate limitation

New Phytologist, Volume 251, Issue 3, Page 1127-1142, August 2026.
Schematic representation of the causal sequence through which rapid water loss imposes diffusive and nondiffusive restrictions on carbon assimilation. Summary Drought is an abnormally prolonged water deficit posing major challenges to plants. Stomatal closure has long been considered the primary factor limiting photosynthesis during the early stages of
Chandra Bellasio, Daniel Tholen, Hilary Stuart‐Williams, Graham D. Farquhar, Jaume Flexas   +4 more
wiley   +1 more source

Panorama general de los organismos genéticamente modificados en Colombia y en el mundo: Capacidad nacional de detección

Revista Colombiana de Biotecnología, 2018
Los organismos genéticamente modificados (OGM) y en particular los cultivos genéticamente modificados (GM), son el resultado de la modificación de la información genética de una especie a partir del uso de la biotecnología moderna para proporcionar ...
John Emerson Leguizamón Guerrero, Andrés Felipe Vela Rojas, María Mercedes Arias Cortés, Luis Felipe Cifuentes Fernández   +3 more
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1467-1481, July 2026.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Concurrent Loss of PIGA and ZRSR2 in a Patient With Paroxysmal Nocturnal Hemoglobinuria and Myelodysplastic Neoplasm

International Journal of Laboratory Hematology, EarlyView.
Fatma AlBulushi, Eric McGinnis
wiley   +1 more source

A tomada de consciência da relação entre Organismos Transgênicos e Organismos Geneticamente Modificados: aprendizagem significativa entre estudantes de uma universidade pública no sudoeste da Bahia

Revista Brasileira de Pesquisa em Educação em Ciências, 2016
Esta pesquisa tem como objetivo acompanhar a tomada de consciência de alunos de disciplinas de Biologia de uma universidade pública da Bahia sobre as relações entre suas conceituações de organismos transgênicos (OT) e organismos geneticamente modificados
Jerry Adriane Pinto de Andrade, Maria Luiza Rheingantz Becker, Reynlado Josué de Paula, Theresinha Fróes Burnham, Marilene Henning Vainstein   +4 more
doaj