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2081
Fournier’s Gangrene in a Heterosexual Man: A Complication of Neisseria meningitidis Urethritis
Published 2012-01-01“…The latter was initially thought to be Neisseria gonorrhea; however, DNA sequencing technique confirmed it to be Neisseria meningitidis. …”
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2082
approach to calculate the transcript capacity
Published 2019-09-01“…We used the genome-wide association study (GWAS) beta effect and transcription level in RNA-sequencing to estimate TC. The trait was body fat percent and the transcript reads were obtained from the human protein atlas. …”
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2083
The high cancer incidence in young people in Italy: do genetic signatures reveal their environmental causes?
Published 2016-03-01“…Today, the whole genome sequencing techniques for human cancers can help to formulate a map of mutational signatures in individual tumours, and a list of mutational fingerprints showing exposure to specific environmental mutagens is being developed. …”
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2084
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
Published 2022-01-01“…His features include intellectual disability, primary microcephaly, delayed psychomotor development, speech delay, short stature, dysmorphic facial features, esotropia, kyphoscoliosis, and behavior abnormalities (Figure). Next generation sequencing revealed autosomal recessive TTI2 variant with uncertain significance, denoted as c.21_22insAAGCGCTCTG (p.Glu8Lysfs × 12). …”
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2085
Protocols for translocation processes of flexible polymers through a pore using LAMMPS
Published 2025-03-01“…This protocol has potential applications in developing mathematical models for DNA sequencing, controlled drug delivery, and cellular transport processes.For complete details on the use and execution of this protocol, please refer to Garg et al.1 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.…”
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2086
Haplotypes-based genetic analysis: benefits and challenges
Published 2019-11-01“…The increasing availability of Single Nucleotide Polymorphisms (SNPs) discovered by Next Generation Sequencing will enable a range of new genetic analyses in crops, which was not possible before. …”
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2087
Interdisciplinary Management of Bilateral Congenital Lateral Incisor Agenesis
Published 2023-01-01“…This case goal was to optimize final results and reach patient complete satisfaction using orthodontic treatment combined with implant rehabilitation, and coupled with interdisciplinary management and well-time sequencing treatment.…”
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2088
RESULTS OF GENE DIAGNOSIS OF LUMPY SKIN DISEASE IN THE DAGESTAN AND CHECHEN REPUBLICS-THE FIRST OFFICIAL CONFIRMATION OF THE DISEASE OCCURRENCE IN THE RUSSIAN FEDERATION TERRITORY
Published 2018-04-01“…Lumpy skin disease virus was detected by polymerase chain reaction (PCR) in samples from the diseased animals. Sequencing of the PCR products confirmed the detected virus identification results. …”
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2089
Naturally occurring volatile organic compounds in deep bedrock groundwater
Published 2025-01-01“…The system revealed a range of indigenous volatile organic compounds, including alcohols, ketones, aldehydes, alkanes, aromatics, and sulfur-compounds. Metagenomic sequencing demonstrated spatially widely distributed genetic potential for microbial volatile organic compound metabolism. …”
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2090
Identification of neoantigens derived from alternative splicing and RNA modification
Published 2019-08-01“…We also describe strategies to predict and validate neoantigens from RNA sequencing data.…”
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2091
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding
Published 2022-01-01“…At the age of 12, due to persistent complex neurodevelopmental concerns, the patient was referred by neurology for whole-exome sequencing. This testing revealed an incidental pathogenic heterozygous KCNH2 deletion, which is associated with long QT-syndrome type II. …”
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2092
Colistin Resistance and Management of Drug Resistant Infections
Published 2022-01-01“…Researchers focus on the most advanced genomics (whole genome sequencing), proteomics, and bioinformatics approaches to explore the question of colistin resistance. …”
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2093
The evolution of personalized medicine: literature review
Published 2022-09-01“…This belief was to somehow confirmed by the use of the latest technologies, such as DNA sequencing, proteomics, imaging protocols and the use of wireless devices for health monitoring, which revealed inter-individual differences in gene expression and penetrance levels. …”
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2094
Avian Paramyxovirus Serotype-1: A Review of Disease Distribution, Clinical Symptoms, and Laboratory Diagnostics
Published 2012-01-01“…Diagnostic tests, including virus isolation, real-time reverse-transcription PCR, and sequencing, are used to characterize the virus and identify virulent strains. …”
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2095
Genome-Wide Association Studies of Hypertension: Light at the End of the Tunnel
Published 2010-01-01“…Following these, there is still further scope to advance the field through high fidelity phenotyping and deep sequencing.…”
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2096
Meaning-making and intervention in child and youth care practice
Published 2004-02-01“…It appears, however, that culture, personal history, sequencing, and specific circumstance play an important role in determining how one uses one's personal interpretive frame to make meaning of his or her encounters (Bruner, 1990 ; Fulcher, 1991; Goffman, 1974; Guttman, 1991). …”
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2097
Sex differences in murine MASH induced by a fructose-palmitate-cholesterol-enriched diet
Published 2025-02-01“…At sacrifice, plasma and liver were retrieved, the latter for single-nucleus RNA sequencing. Publicly available data sets of human male and female MASH liver were probed. …”
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2098
La mise en œuvre d’un aqueduc : l’exemple de la Brévenne à Lyon
Published 2023-12-01“…The excavated remains must be understood in terms of this sequencing process.In this process, altimetry is the fundamental data point. …”
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2099
circICMT upregulates and suppresses the malignant behavior of bladder cancer
Published 2025-02-01“…Method: Differentially expressed circRNAs were identified from RNA sequencing data and circICMT was identified as a new candidate circRNA. qRT-PCR and sanger sequencing were used to detect the expression of circICMT in bladder cancer tissue specimens. …”
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2100
Benchmarking the identification of a single degraded protein to explore optimal search strategies for ancient proteins
Published 2024-11-01“…We also explored alternative strategies, including open search that allows for the global identification of PTMs based upon wide precursor mass tolerance and de novo sequencing to boost sequence coverage. We analysed the samples using Mascot, MaxQuant, Metamorpheus, pFind, Fragpipe and DeNovoGUI (pepNovo+, DirecTag, Novor), benchmarked these tools and discuss the optimal strategy for the characterisation of ancient proteins. …”
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