Results 31 to 40 of about 140,626 (267)

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, Myeong Han Seo, Sihoon Lee   +2 more
doaj   +1 more source

Bacteriome analysis of Aggregatibacter actinomycetemcomitans-JP2 genotype-associated Grade C periodontitis in Moroccan adolescents

Frontiers in Oral Health, 2023
BackgroundGrade C (previously aggressive) periodontitis (GCP) in adolescents is prevalent in certain parts of Africa where it is associated with JP2 genotype, a highly virulent strain of Aggregatibacter actinomycetemcomitans. The aim of this study was to
Vijaya Lakshmi Pavani Molli, Jamila Kissa, Divyashri Baraniya, Amina Gharibi, Tsute Chen, Nezar N. Al-Hebshi, Jasim M. Albandar   +6 more
doaj   +1 more source

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, Ding-Li Chen, Su-Bin Zhao, Li-Li Guo, Hai-Qin Feng, Xiao-Fang Zhang, Li-Li Ping, Zhi-Ming Yang, Cai-Xia Sun, Gen-Dong Yao   +9 more
doaj   +1 more source

Evaluation of the diagnostic effectiveness of next generation sequencing in sepsis etiology: a systematic review and meta-analysis

Journal of Infection in Developing Countries, 2023
Introduction: Systematic evaluation of the diagnostic value of next generation sequencing (NGS) in sepsis etiology. Methodology: We conducted a systematic search on four databases (Web of Science, Cochrane, PubMed, and Embase) and compiled diagnostic ...
Dong Li, Yinghao Yang, Ying Xie, Jianrong Wang, Wensheng Xu, Junxue Wang, Xiaofeng Hang   +6 more
doaj   +1 more source

Diagnostics of hereditary cancer syndromes by ngs. A database creation experience [PDF]

Клиническая практика, 2021
Background: More than 500 thousand new cases of malignant neoplasms are registered annually in the Russian Federation, of which more than 50 thousand new cases are due to hereditary forms.
Ivan S. Abramov, Tatyana S. Lisitsa, Anna M. Stroganova, Oxana O. Ryabaya, Anastasiya M. Danishevich, Anastasia O. Khakhina, Anastasiya I. Zakamornaya, Alina D. Matsvay, German A. Shipulin   +8 more
doaj   +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, Lichao Gao, Dan Xu, Dehua Yang, Zhimin Chen, Yingshuo Wang   +5 more
doaj   +1 more source

Genes Associated with Coma or Recurrent Coma and Role of Next Generation Sequencing in Diagnosis of Disease-Causing Genes

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, hamedreza goodarzi, javad zahiri, mojtaba jafarinia   +3 more
doaj  

Identification of New Single Nucleotide Polymorphisms Potentially Related to Small Ruminant Lentivirus Infection Susceptibility in Goats Based on Data Selected from High-Throughput Sequencing

Pathogens
Small ruminant lentivirus (SRLV) infections are spread in the flocks of sheep and goats all over the world, causing economic loss. Although only a fraction of infected animals develop disease symptoms, all of them may shed the virus, causing uncontrolled spread of the infection.
Magdalena Materniak-Kornas, Katarzyna Ropka‐Molik, Katarzyna Piórkowska, Joanna Kowalik, Tomasz Szmatoła, Jacek Sikora, Aldona Kawęcka, Jacek Kuźmak   +7 more
openalex   +4 more sources

Melon Transcriptome Characterization: Simple Sequence Repeats and Single Nucleotide Polymorphisms Discovery for High Throughput Genotyping across the Species [PDF]

The Plant Genome, 2011
Melon (Cucumis melo L.) ranks among the highest-valued fruit crops worldwide. Some genomic tools are available for this crop, including a Sanger transcriptome. We report the generation of 689,054 C. melo high-quality expressed sequence tags (ESTs) from two 454 sequencing runs, using normalized and nonnormalized complementary DNA (cDNA) libraries ...
Blanca Postigo, José Miguel, Cañizares Sales, Joaquín, Ziarsolo Areitioaurtena, Pello, Esteras Gómez, Cristina, Mir, Gisela, Nuez Viñals, Fernando, Garcia-Mas, Jordi, Picó Sirvent, María Belén   +7 more
openaire   +4 more sources

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, Taesup Moon, Sungroh Yoon, Tsachy Weissman   +3 more
doaj   +1 more source