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Nucleotide sequencing
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In Vietnam, SMEDI syndrome in sows caused by PPV is nationwide and has been of concern since the early 1990s. Previous studies have investigated the prevalence of PPVs using serological testing and PCR methods. The objective of this study is to analyze the genotypic prevalence of PPVs and molecular characterization of VP gene of PPV2 from slaughtered pigs in Central Vietnam.
10p
viritesh
02-04-2024
1
1
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Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification of copy number variants (CNVs) using ES data remains challenging. The purpose of this study is to understand the contribution of CNVs and copy neutral runs of homozygosity (ROH) in molecular diagnosis of patients referred for ES.
17p
vibransone
28-03-2024
3
1
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Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, few systematic analyses of mosaic variants detected by diagnostic exome sequencing for diverse clinical indications have been performed.
11p
vibransone
28-03-2024
2
2
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Since different types of genetic variants, from single nucleotide variants (SNVs) to large chromosomal rearrangements, underlie intellectual disability, we evaluated the use of whole-genome sequencing (WGS) rather than chromosomal microarray analysis (CMA) as a first-line genetic diagnostic test.
23p
vibransone
28-03-2024
1
1
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Tumor mutational burden (TMB; the quantity of aberrant nucleotide sequences a given tumor may harbor) has been associated with response to immune checkpoint inhibitor therapy and is gaining broad acceptance as a result. However, TMB harbors intrinsic variability across cancer types, and its assessment and interpretation are poorly standardized.
16p
vibransone
28-03-2024
2
2
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Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small insertions, and deletions.
11p
vioraclene
31-03-2024
3
1
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In this study we generated a whole exome sequencing benchmark dataset using the platinum genome sample NA12878 and developed an intersect-then-combine (ITC) approach to increase the accuracy in calling single nucleotide variants (SNVs) and indels in tumour-normal pairs. We evaluated the effect of alignment, base quality recalibration, mutation caller and filtering on sensitivity and false positive rate.
11p
vioraclene
31-03-2024
4
2
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We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCKRD) since mid-2015.
15p
vibransone
28-03-2024
4
2
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Inflammatory breast cancer (IBC) has a highly invasive and metastatic phenotype. However, little is known about its genetic drivers. To address this, we report the largest cohort of whole-genome sequencing (WGS) of IBC cases.
14p
vibransone
28-03-2024
3
2
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Single-cell genomics is a rapidly advancing field; however, most techniques are designed for mammalian cells. We present a single-cell sequencing pipeline for an intracellular parasite, Plasmodium falciparum, with a small genome of extreme base content.
23p
vibransone
28-03-2024
1
1
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Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success.
15p
vibransone
28-03-2024
3
2
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Ebook Gene regulatory sequences and human disease, the Editor will introduce the different technological advances that led to this breakthrough. In addition, several examples will be provided of nucleotide variants in noncoding sequences that have been shown to be associated with various human diseases.
289p
duongthandue0501
28-02-2024
3
1
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Very low-coverage (0.1 to 1×) whole genome sequencing (WGS) has become a promising and aford‑ able approach to discover genomic variants of human populations for genome-wide association study (GWAS).
18p
vicwell
29-02-2024
2
1
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Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences. As a result, some sequence contexts mutate at much higher rates than others, with additional variation found between functional regions.
19p
vicwell
29-02-2024
2
1
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Metabolic reprogramming is a hallmark of cancer, alteration of nucleotide metabolism of hepatocellular carcinoma (HCC) is not well-understood. MYBL2 regulates cell cycle progression and hepatocarcinogenesis, its role in metabolic regulation remains elusive.
13p
vileonardodavinci
23-12-2023
3
2
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We evaluated the performance of single-nucleotide polymorphism (SNP) genotyping arrays OncoScan (Thermo Fisher Scientific, San Diego, CA) and Infinium CytoSNP-850K (CytoSNP; Illumina, Waltham, MA) for assessing homologous recombination deficiency (HRD) genomic instability.
9p
vileonardodavinci
23-12-2023
4
3
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Single nucleotide polymorphism (SNP) is a genetic variation that occurs when a single nucleotide base in the DNA sequence varies between individuals and is present in at least 1% of the population. Genetic variants in FAM13A are associated with different types of chronic respiratory diseases, including chronic obstructive pulmonary disease (COPD), cystic fibrosis (CF), and lung cancer.
9p
vioracle
29-09-2023
8
4
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Whole-genome doubling (WGD) is a common mutation in cancer. Various studies have suggested that WGD is associated with a poor prognosis in cancer. However, the detailed association between WGD occurrence and prognosis remains unclear. In this study, we aimed to elucidate the mechanism by which WGD affects prognosis using sequencing data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) and The Cancer Genome Atlas.
15p
vioracle
29-09-2023
4
3
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In order to accurately identify ginseng species (Panax spp.) that grow naturally in some Northern provinces of Vietnam, we collected 30 natural ginseng samples and used nuclear genetic region (ITSrDNA) for current analysis.
9p
vimulcahy
18-09-2023
4
3
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In this paper, we present the results of sequencing, analysis and comparison of changes in the genome betweenthe attenuated virus strain Hanvet1.vn and the original pathogenic strain 02HY in order to evaluate the genetic changes related to the virulence and immunogenicity of the vaccine.
8p
vimulcahy
18-09-2023
5
3
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