Results 21 to 30 of about 184,715 (310)

Sequencing and Optical Genome Mapping for the Adventurous Chemist [PDF]

Chemical & Biomedical Imaging
This review provides a comprehensive overview of the chemistries and workflows of the sequencing methods that have been or are currently commercially available, providing a very brief historical introduction to each method. The main optical genome mapping approaches are introduced in the same manner, although only a subset of these are or have ever ...
Elizabete Ruppeka Rupeika, Laurens D’Huys, Volker Leen, Johan Hofkens   +3 more
doaj   +5 more sources

Optical genome mapping identified deletions, inversions, and insertions in hemophilia [PDF]

Blood Advances
Boyan Liu, Lu Zhou, Lijuan Cao, Haoning Liu, Laigen Tong, Zichan Zhang, Hongjie Shen, Changgeng Ruan, Yafeng Zhou, Miao Jiang   +9 more
doaj   +4 more sources

Optical genome mapping identifies rare structural variants in neural tube defects. [PDF]

Genome Res
Neural tube defects (NTDs) are the most common birth defects of the central nervous system and occur as either isolated malformations or accompanied by anomalies of other systems.
Sahajpal NS, Dean J, Hilton B, Fee T, Skinner C, Hastie A, DuPont BR, Chaubey A, Friez MJ, Stevenson RE.   +9 more
europepmc   +2 more sources

Analytic Validation of Optical Genome Mapping in Hematological Malignancies

Biomedicines, 2023
Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence in situ hybridization (FISH), which have been employed globally for the past three decades,
Andy W. C. Pang, Karena Kosco, Nikhil S. Sahajpal, Arthi Sridhar, Jen Hauenstein, Benjamin Clifford, Joey Estabrook, Alex D. Chitsazan, Trilochan Sahoo, Anwar Iqbal, Ravindra Kolhe, Gordana Raca, Alex R. Hastie, Alka Chaubey   +13 more
doaj   +3 more sources

Identification of an F8 complex recombination in Chinese hemophilia a patient using long-read sequencing and optical genome mapping. [PDF]

BMC Med Genomics
Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by pathogenic variants in the F8 gene, resulting in deficient coagulation factor VIII activity. Although intron 22 and intron 1 inversions (Inv22 and Inv1) accounts for approximately 50%
Zhang Y, Yang M, Yan L, Han C, Xue J, Geng J, Chen C, Bao L, Xu B, Wu S, Li H.   +10 more
europepmc   +2 more sources

Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling. [PDF]

Sci Rep
Optical genome mapping (OGM) offers high consistency in simultaneously detecting structural and copy number variants. This study aimed to retrospectively evaluate the efficacy and potential applications of OGM in preconception genetic counseling. Herein,
Yin K, Li M, Zhang H, Chang J, Qi Q, Zhou X, Guo J, Wang Y, Mao X, Hao N, Jiang Y.   +10 more
europepmc   +2 more sources

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications. [PDF]

Genome Med
Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and requires a technology able to span the entire duplicated segment(s) on ...
Pei Y, Calpena E, Brown JM, Schwessinger R, Platts L, McGowan SJ, Ashraf T, Forzano F, Hurst JA, Jones WD, Sarkar A, Gibbons RJ, Twigg SRF, Wilkie AOM.   +13 more
europepmc   +2 more sources

Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases. [PDF]

Int J Mol Sci
Rare diseases (RDs) often have a genetic basis, yet conventional diagnostic techniques fail to identify causative genetic variations in up to 50% of cases.
Orellana C, Rosello M, Sanchis A, Pedrola L, Martín-Grau C, Gabaldón-Albero A, Senent ML, Such E, García-Ruiz C, Avetisyan G, Martínez F.   +10 more
europepmc   +2 more sources

Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation. [PDF]

Mol Cytogenet
Optical genome mapping (OGM) is a next-generation cytogenetic technique that may be beneficial for detecting subtle structural chromosomal alterations that can go unnoticed with conventional studies in couples with recurrent pregnancy loss. We report the
Del Águila MDM, Bernal M, Vílchez JR, Romero B, Castilla JA, Álvarez G, Clavero A, Poyatos A, Ruíz-Cabello F.   +8 more
europepmc   +2 more sources

Exploring the Potential of Optical Genome Mapping in the Diagnosis and Prognosis of Soft Tissue and Bone Tumors. [PDF]

Int J Mol Sci
Sarcomas are rare malignant tumors of mesenchymal origin with a high misdiagnosis rate due to their heterogeneity and low incidence. Conventional diagnostic techniques, such as Fluorescence In Situ Hybridization (FISH) and Next-Generation Sequencing (NGS)
Berenguer-Rubio A, Such E, Hernández NT, González-Rojo P, Díaz-González Á, Avetisyan G, Gil-Aparicio C, González-López J, Pantoja-Borja N, Rubio-Martínez LA, Hernández-Girón S, Valera-Cuesta MS, Ramírez-Fuentes C, Simonet-Redondo M, Díaz-Beveridge R, de la Calva C, Amaya-Valero JV, Ballester-Ibáñez C, Liquori A, Giner F, Mayordomo-Aranda E.   +20 more
europepmc   +2 more sources