Results 31 to 40 of about 373,405 (315)

Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]

, 2011
Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core   +1 more source

High-throughput Interpretation of Killer-cell Immunoglobulin-like Receptor Short-read Sequencing Data with PING

bioRxiv, 2021
The killer-cell immunoglobulin-like receptor (KIR) complex on chromosome 19 encodes receptors that modulate the activity of natural killer cells, and variation in these genes has been linked to infectious and autoimmune disease, as well as having bearing
Wesley M. Marin, R. Dandekar, D. Augusto, T. Yusufali, B. Heyn, J. Hofmann, V. Lange, J. Sauter, P. Norman, J. Hollenbach   +9 more
semanticscholar   +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

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

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

SNP Assay Development for Linkage Map Construction, Anchoring Whole-Genome Sequence, and Other Genetic and Genomic Applications in Common Bean. [PDF]

, 2015
A total of 992,682 single-nucleotide polymorphisms (SNPs) was identified as ideal for Illumina Infinium II BeadChip design after sequencing a diverse set of 17 common bean (Phaseolus vulgaris L) varieties with the aid of next-generation sequencing ...
Cregan, Perry B, Hwang, Eun-Young, Hyten, David L, Jackson, Scott A, Jenkins, Jerry, Jia, Gaofeng, McClean, Phillip E, Osorno, Juan M, Schmutz, Jeremy, Schroeder, Steven G, Song, Qijian   +10 more
core   +1 more source

High‐throughput capture of nucleotide sequence polymorphisms in three Brassica species (Brassicaceae) using DNA microarrays [PDF]

American Journal of Botany, 2012
• Premise of the study: To capture molecular markers that are applicable to environmental risk assessment of genetically modified oilseed rape, and to streamline their development, we screened variations in nucleotide sequences of three Brassica species by DNA microarray analysis.• Methods and Results: Using the Affymetrix GeneChip Arabidopsis ATH1 ...
Toru, Nishizawa, Masanori, Tamaoki, Yukio, Kaneko, Mitsuko, Aono, Akihiro, Kubo, Hikaru, Saji, Nobuyoshi, Nakajima   +6 more
openaire   +2 more sources

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

Capturing the ‘ome’ : the expanding molecular toolbox for RNA and DNA library construction [PDF]

, 2018
All sequencing experiments and most functional genomics screens rely on the generation of libraries to comprehensively capture pools of targeted sequences.
Boone, Morgane, Callewaert, Nico, De Koker, Andries   +2 more
core   +2 more sources

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