Results 21 to 30 of about 229,759 (254)
Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China [PDF]
Clinical and Experimental Otorhinolaryngology, 2015 ObjectivesInfants with slight/mild or late-onset hearing impairment might be missed in universal newborn hearing screening (UNHS). We identified the mutation hot spot of common deaf gene in the newborns in Jinan area population by screening the mutation ...
Shou-Xia Li +9 more
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Statistical distributions of sequencing by synthesis with probabilistic nucleotide incorporation [PDF]
Journal of Computational Biology. June 2009, 16(6): 817-827, 2014 Sequencing by synthesis is used in many next-generation DNA sequencing technologies. Some of the technologies, especially those exploring the principle of single-molecule sequencing, allow incomplete nucleotide incorporation in each cycle. We derive statistical distributions for sequencing by synthesis by taking into account the possibility that ...
arxiv +1 more source
Clinical features of Streptococcus intermedius infection in children: a case series study
Frontiers in Microbiology, 2023 IntroductionStreptococcus intermedius is an opportunistic pathogen associated with prolonged hospital stays and high mortality rates in adults. However, little is currently known about the clinical features of Streptococcus intermedius infection in ...
Zhufei Xu +5 more
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Search for Novel Mutational Targets in Human Endocrine Diseases [PDF]
Endocrinology and Metabolism, 2019 The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human ...
So Young Park +2 more
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Medical Laboratory Journal, 2022 Coma is a state of prolonged unconsciousness. Some coma cases result from inherited disorders such as fatty-acid β-oxidation disorder, acute intermittent porphyria (due to mutations in genes CPT I, CPTII and ACADM), urea cycle defects (due to mutation in
fatemeh asadi +3 more
doaj
DUDE-Seq: Fast, flexible, and robust denoising for targeted amplicon sequencing. [PDF]
PLoS ONE, 2017 We consider the correction of errors from nucleotide sequences produced by next-generation targeted amplicon sequencing. The next-generation sequencing (NGS) platforms can provide a great deal of sequencing data thanks to their high throughput, but the ...
Byunghan Lee +3 more
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Intervention of next-generation sequencing in diagnosis of Alzheimer’s disease: challenges and future prospects [PDF]
Dementia & Neuropsychologia, 2023 Clinical diagnosis of several neurodegenerative disorders based on clinical phenotype is challenging due to its heterogeneous nature and overlapping disease manifestations.
Tijimol Chandy
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Relationship between promoter sequence and its strength in gene expression [PDF]
Eur. Phys. J. E 37 (2014) 86, 2014 In this study, through various tests one theoretical model is presented to describe the relationship between promoter strength and its nucleotide sequence. Our analysis shows that, promoter strength is greatly influenced by nucleotide groups with three adjacent nucleotides in its sequence.
arxiv +1 more source
Plants, 2021 High-throughput sequencing from symptomatic tomato and pepper plants collected in Panama rendered the complete genome of the southern tomato virus (isolate STV_Panama) and bell pepper endornavirus (isolate BPEV_Panama), and almost-complete genomes of ...
Luis Galipienso +4 more
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Structural representations of DNA regulatory substrates can enhance sequence-based algorithms by associating functional sequence variants [PDF]
Proceedings of the 11th ACM International Conference on
Bioinformatics, Computational Biology and Health Informatics (BCB '20),
September 21--24, 2020, Virtual Event, USA, 2020 The nucleotide sequence representation of DNA can be inadequate for resolving protein-DNA binding sites and regulatory substrates, such as those involved in gene expression and horizontal gene transfer. Considering that sequence-like representations are algorithmically very useful, here we fused over 60 currently available DNA physicochemical and ...
arxiv +1 more source