Výsledky vyhledávání - "long-read sequencing"

Discovery and evolutionary analysis of novel genes and translated ORFs

Autoři: Montañés Domínguez, José Carlos

Přispěvatelé: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Albà Soler, Mar

Zdroj: TDX (Tesis Doctorals en Xarxa)

Témata: De novo genes, Evolution, Gene duplication, Long read sequencing, Ribo-seq, Gens duplicats, Gens de novo, Evolució, Seqüenciació de lectura llarga, Empremta ribosomal

Popis souboru: application/pdf

Přístupová URL adresa: http://hdl.handle.net/10803/691842

Evolutionary insights into primate gene regulation and development of methods to study DNA modifications

Autoři: Esteller Cucala, Paula

Přispěvatelé: University/Department: Universitat Pompeu Fabra. Departament de Medicina i Ciències de la Vida

Thesis Advisors: Marquès i Bonet, Tomàs, Juan Sopeña, David Alejandro

Zdroj: TDX (Tesis Doctorals en Xarxa)

Témata: Gene regulation, Primates, Methylation, Long-read sequencing, EOH-seq, Regulació de gens, Primats, Metilació, Seqüenciació de lectura llarga

Popis souboru: application/pdf

Přístupová URL adresa: http://hdl.handle.net/10803/688164

Evolution of the transcriptomic regulation in the primate lineage

Autoři: Ferrández Peral, Luis

Přispěvatelé: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Marquès i Bonet, Tomàs, Juan Sopeña, David Alejandro

Zdroj: TDX (Tesis Doctorals en Xarxa)

Témata: Transcriptome, Long-read sequencing, Isoform diversity, Primates, Evolución, Transcriptoma, Secuenciación de lectura larga, Diversidad de isoformas

Popis souboru: application/pdf

Přístupová URL adresa: http://hdl.handle.net/10803/674496

A Needle in a Haystack: Improving Genetic Analysis of Challenging Medically Relevant MUC1 Gene

Autoři: Grentzinger, Victor PALMEIRA, Leonor Durkin, Keith a další

Zdroj: International Symposium on Human Genomics, Paris, France [FR], 05/05/2025 - 07/05/2025

Témata: challenging medically relevant gene, long read sequencing, variable number tandem repeat, MUC1, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Přístupová URL adresa: https://orbi.uliege.be/handle/2268/334462

Application of genome assembly methods to human and non-human primate genomics

Autoři: Kuderna, Lukas

Přispěvatelé: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Marquès i Bonet, Tomàs

Zdroj: TDX (Tesis Doctorals en Xarxa)

Témata: Primate genomics, Genome assembly, Long read sequencing, Y chromosome, Chimpanzee, Genòmica dels primats, Assemblatge de genomes, Seqüenciació de lectures llargues, Cromosoma y, Ximpancé

Popis souboru: application/pdf

Přístupová URL adresa: http://hdl.handle.net/10803/668648

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

Autoři: Chen, Zhongbo Jerez, Pilar Alvarez Anderson, Claire a další

Zdroj: Movement Disorders. 40(2)

Témata: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Brain Disorders, Neurodegenerative, Rare Diseases, Genetics, Humans, Spinocerebellar Ataxias, Male, Female, Sweden, Trinucleotide Repeat Expansion, Pedigree, Middle Aged, Utah, Adult, Iowa, ataxia, long-read sequencing, repeat expansion disorder, haplotype, spinocerebellar ataxia type 4, long‐read sequencing, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences

Popis souboru: application/pdf

Přístupová URL adresa: https://escholarship.org/uc/item/7p09g9sd
https://escholarship.org/content/qt7p09g9sd/qt7p09g9sd.pdf

Methodology for Extracting High-Molecular-Weight DNA from Field Collections of Macrofungi

Autoři: Burgoyne, Leigh A Nilsen, Andy R Lebel, Teresa a další

Zdroj: Journal of Fungi. 11(7)

Témata: 31 Biological Sciences (for-2020), 3105 Genetics (for-2020), Genetics (rcdc), Generic health relevance (hrcs-hc), fungi, remote sampling, DNA extraction, chromatin, purification, long-read sequencing, genomes, DNA extraction, chromatin, fungi, genomes, long-read sequencing, purification, remote sampling, 3107 Microbiology (for-2020)

Popis souboru: application/pdf

Přístupová URL adresa: https://escholarship.org/uc/item/338002vb
https://escholarship.org/content/qt338002vb/qt338002vb.pdf

Polymorphic transposable elements contribute to variation in recombination landscapes

Autoři: Huang, Yuheng Gao, Zita Y Ly, Kayla a další

Zdroj: Proceedings of the National Academy of Sciences of the United States of America. 122(12)

Témata: 31 Biological Sciences (for-2020), 3102 Bioinformatics and Computational Biology (for-2020), 3103 Ecology (for-2020), 3105 Genetics (for-2020), Genetics (rcdc), Human Genome (rcdc), Biotechnology (rcdc), DNA Transposable Elements (mesh), Animals (mesh), Recombination, Genetic (mesh), Polymorphism, Genetic (mesh), Evolution, Molecular (mesh), Drosophila melanogaster (mesh), Crossing Over, Genetic (mesh), Drosophila (mesh), Animals (mesh), Drosophila (mesh), Drosophila melanogaster (mesh), DNA Transposable Elements (mesh), Evolution, Molecular (mesh), Recombination, Genetic (mesh), Crossing Over, Genetic (mesh), Polymorphism, Genetic (mesh), epigenetic silencing, long-read sequencing, polymorphism, recombination, transposable elements, DNA Transposable Elements (mesh), Animals (mesh), Recombination, Genetic (mesh), Polymorphism, Genetic (mesh), Evolution, Molecular (mesh), Drosophila melanogaster (mesh), Crossing Over, Genetic (mesh), Drosophila (mesh)

Popis souboru: application/pdf

Přístupová URL adresa: https://escholarship.org/uc/item/97b0b6w0
https://escholarship.org/content/qt97b0b6w0/qt97b0b6w0.pdf

Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow

Autoři: Javad Jamshidi Conor Rowntree Shannon Fadaee a další

Zdroj: BMC Medical Genomics, Vol 18, Iss 1, Pp 1-10 (2025)

Témata: Nanopore long-read sequencing, Phasing, Long-range PCR, Internal medicine, RC31-1245, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1755-8794

Přístupová URL adresa: https://doaj.org/article/757a6b949e9f430d8c7bdab437b5a6ff

A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes

Autoři: Tatsuki Urakawa Atsushi Hattori Yasuko Ogiwara a další

Zdroj: Genome Medicine, Vol 17, Iss 1, Pp 1-16 (2025)

Témata: Long-read sequencing, Differentially methylated region, Adaptive sampling, Imprinting disorders, Methylation, Medicine, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1756-994X

Přístupová URL adresa: https://doaj.org/article/1379d5280c89403886371ebe4a1868ad

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing

Autoři: Yuqi Yang Ying Wang Bin Zhang a další

Zdroj: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-9 (2025)

Témata: Congenital adrenal hyperplasia, Long-read sequencing, Newborn genomic sequencing, Newborn screening, Single molecule sequencing, Medicine

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1750-1172

Přístupová URL adresa: https://doaj.org/article/1b60fd716552486897fcbd9cc7063fca

Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping

Autoři: Pamela Hui Peng Gan Han Lin Yeo Muhammad Irfan Bin Hajis a další

Zdroj: Scientific Reports, Vol 15, Iss 1, Pp 1-19 (2025)

Témata: Pharmacogenomics, Long-read sequencing, Adaptive sampling, Haplotype phasing, Structural variants, Genome-wide genotyping, Medicine, Science

Popis souboru: electronic resource

Relation: https://doaj.org/toc/2045-2322

Přístupová URL adresa: https://doaj.org/article/56852c966f2141059cffb0e4384fb083

Long-read sequencing analysis of non-classical congenital adrenal hyperplasia prevalence and carrier frequency in Chinese polycystic ovarian syndrome patients

Autoři: Ying Huang Huahua Jiang Xiaohui Zhu a další

Zdroj: Journal of Ovarian Research, Vol 18, Iss 1, Pp 1-10 (2025)

Témata: Non-classical congenital adrenal hyperplasia, PCOS, Long-read sequencing, Prevalence, Carrier, Gynecology and obstetrics, RG1-991

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1757-2215

Přístupová URL adresa: https://doaj.org/article/7180cdc89f01443b826073ce8c20e2a7

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy

Autoři: Haruka Urabe Takashi Nakajima Satomi Mitsuhashi a další

Zdroj: BMC Medical Genomics, Vol 18, Iss 1, Pp 1-7 (2025)

Témata: Long-read sequencing, Gene panel, Familial adult myoclonic epilepsy, Benign adult-onset familial myoclonic epilepsy, Repeat diseases, Internal medicine, RC31-1245, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1755-8794

Přístupová URL adresa: https://doaj.org/article/31efe70b3748475da32a4867424bc16d

Utility of long-read sequencing to delineate a rare large deletion of beta-globin gene which escaped Sanger sequencing at prenatal diagnosis in a family clustered with hereditary persistence of fetal hemoglobin

Autoři: Dong-Jay Lee Shun-Ping Chang Min-Jun Liao a další

Zdroj: Taiwanese Journal of Obstetrics & Gynecology, Vol 64, Iss 6, Pp 1080-1084 (2025)

Témata: Chromosome microarray, Genetic counseling, Hereditary persistence of fetal hemoglobin, Long read sequencing, Sanger sequencing, Gynecology and obstetrics, RG1-991

Popis souboru: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S102845592500258X; https://doaj.org/toc/1028-4559

Přístupová URL adresa: https://doaj.org/article/bafa91029e48496babb804126ce2d02a

High-resolution profiling of bacterial and fungal communities using pangenome-informed taxon-specific long-read amplicons

Autoři: Luzia Stalder Monika Maurhofer Daniel Croll

Zdroj: Microbiome, Vol 13, Iss 1, Pp 1-21 (2025)

Témata: Amplicon sequencing, Long-read sequencing, PacBio, Sequel II, Multiplexing, Pangenome, Microbial ecology, QR100-130

Popis souboru: electronic resource

Relation: https://doaj.org/toc/2049-2618

Přístupová URL adresa: https://doaj.org/article/1967a049b8134970b11a723ecd0b8c68

Entering the era of precision medicine to treat amyotrophic lateral sclerosis

Autoři: Frances Theunissen Loren Flynn Alfredo Iacoangeli a další

Zdroj: Molecular Neurodegeneration, Vol 20, Iss 1, Pp 1-25 (2025)

Témata: Personalised medicine, Antisense oligonucleotide, Genetics, Understanding heterogeneity, Long-read sequencing, Patient profiling, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1750-1326

Přístupová URL adresa: https://doaj.org/article/9ccba51a7f314cc1bffbd7ae9dc775ae

Long-read sequencing unmasks a cryptic three-way translocation resulting in an ETV6::PDGFRB fusion

Autoři: Joseph Tripodi Douglas Tremblay Daiva Ahire a další

Zdroj: Molecular Cytogenetics, Vol 18, Iss 1, Pp 1-5 (2025)

Témata: Long-read sequencing, PDGFRB, Cryptic translocation, Myeloid/lymphoid neoplasms, Tyrosine kinase inhibitors, ETV6::PDGFRB, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1755-8166

Přístupová URL adresa: https://doaj.org/article/8192132531f94535b164a25e5a258119

Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review

Autoři: Wenche Sjursen Eva Kathrine Svaasand Bodil Gilde a další

Zdroj: Hereditary Cancer in Clinical Practice, Vol 23, Iss 1, Pp 1-10 (2025)

Témata: Lynch syndrome, Retrotransposons, Whole genome sequencing, Long-read sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1897-4287

Přístupová URL adresa: https://doaj.org/article/aae29ff5081942769ce6346f22f83fe2

Complex structural variant visualization with SVTopo

Autoři: Jonathan R. Belyeu William J. Rowell Juniper A. Lake a další

Zdroj: BMC Genomics, Vol 26, Iss 1, Pp 1-10 (2025)

Témata: Structural variant, Genome visualization, Long-read sequencing, Complex SV, Biotechnology, TP248.13-248.65, Genetics, QH426-470

Popis souboru: electronic resource

Relation: https://doaj.org/toc/1471-2164

Přístupová URL adresa: https://doaj.org/article/4b31abdcbc494eecb5d84f35e78d171b