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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Utilization of high throughput genome sequencing technology for large scale single nucleotide polymorphism discovery in red deer and Canadian elk [PDF]
, 2015 ABSTRACTDeer farming is a significant international industry. For genetic improvement, using genomic tools, an ordered array of DNA variants and associated flanking sequence across the genome is required. This work reports a comparative assembly of the deer genome and subsequent DNA variant identification.
Rüdiger Bräuning +8 more
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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
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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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A High-Throughput Method for Illumina RNA-Seq Library Preparation. [PDF]
, 2012 With the introduction of cost effective, rapid, and superior quality next generation sequencing techniques, gene expression analysis has become viable for labs conducting small projects as well as large-scale gene expression analysis experiments. However,
Daniel H Chitwood +8 more
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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 +6 more
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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 +6 more
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High, clustered, nucleotide diversity in the genome of Anopheles gambiae revealed through pooled-template sequencing: implications for high-throughput genotyping protocols [PDF]
BMC Genomics, 2009 Association mapping approaches are dependent upon discovery and validation of single nucleotide polymorphisms (SNPs). To further association studies in Anopheles gambiae we conducted a major resequencing programme, primarily targeting regions within or close to candidate genes for insecticide resistance.Using two pools of mosquito template DNA we ...
Craig S. Wilding +3 more
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High-throughput, Efficient, and Unbiased Capture of Small RNAs from Low-input Samples for Sequencing. [PDF]
, 2019 MicroRNAs hold great promise as biomarkers of disease. However, there are few efficient and robust methods for measuring microRNAs from low input samples.
Belair, Cassandra D +5 more
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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 +8 more
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