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Current genotyping
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For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective.
18p
vibransone
28-03-2024
5
2
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Ebook "Human nucleotide expansion disorders" represents a comprehensive and up-to-date description of many of the better-studied disorders. The expert authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms. Of special interest are ideas and initial results of the different therapeutic strategies that can be employed to overcome some of the disorders.
296p
manmanthanhla0201
27-02-2024
5
2
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Although there is broad consensus that only a subset of CIN3 will progress to cancer, there is currently no surefire way to predict which CIN3 will regress. Understanding the natural history of CIN3 is important, and finding markers for progression or regression could improve treatment strategies.
8p
vileonardodavinci
23-12-2023
5
3
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Part 1 book "PCR Technology - Current innovations" includes content: Pre-PCR processing strategies, use of a liposomal internal control vehicle for whole process quality assurance of nucleic acid amplification, using scorpion primers for genotyping, thermocycler calibration and analytical assay validation, dropletization of bioreactions - how single cell quantitative analyses may improve gene measurement and cancer diagnosis,.... and other contents.
192p
oursky06
17-10-2023
3
1
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Part 1 book "Genomic selection in animals" includes content: Historical overview; types of current genetic markers and genotyping methodologies; advanced animal breeding programs prior to genomic selection; economic evaluation of genetic breeding programs; least squares, maximum likelihood, and bayesian parameter estimation.... and other contents.
84p
oursky05
20-09-2023
6
2
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Hemoglobinopathy is the most common monogenic disease worldwide. The aims of the current study were: (1) to investigate some hematological characteristics of patients with hemoglobinopathies; and (2) to detect the mutation of α-globin and β-globin genes, as well as the association between genotype and degree of anemia.
8p
vicaptainmarvel
21-04-2023
2
2
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The current research project genotyped HAV RNA by using protocols and primer sets designed by HAVNET. It collected and genotyped previous HAV-positive samples in VIDRL sample bank, and the results were used to establish epidemiological and molecular database of the HAV strains. The database was used to investigate the relationship between the current diagnostic samples and the previous HAV infection cases. It was expected to identify the source of the hepatitis A infection.
158p
runthenight04
02-02-2023
3
2
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Although harness racing is of high economic importance to the global equine industry, significant genomic resources have yet to be applied to mapping harness racing success. To identify genomic regions associated with harness racing success, the current study performs genome-wide association analyses with three racing performance traits in the Norwegian-Swedish Coldblooded Trotter using the 670 K Axiom Equine Genotyping Array.
13p
vihagrid
30-01-2023
7
3
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Current genotyping approaches for single-nucleotide variations rely on short, accurate reads from second-generation sequencing devices. Presently, third-generation sequencing platforms are rapidly becoming more widespread, yet approaches for leveraging their long but error-prone reads for genotyping are lacking.
16p
vigalileogalilei
27-02-2022
9
1
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Currently, more than 300 genotypes of Toxoplasma gondii (T. gondii) have been described throughout the world, demonstrating its wide genetic diversity. The SAG3 locus is one of the genes included in the genotyping panel of this parasite.
8p
vidarwin
22-02-2022
8
1
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The current bovine genomic reference sequence was assembled from a Hereford cow. The resulting linear assembly lacks diversity because it does not contain allelic variation, a drawback of linear references that causes reference allele bias.
27p
viarchimedes
26-01-2022
6
0
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The Mediterranean cereal cyst nematode, Heterodera latipons, is an important plant parasitic nematode that negatively impacts cereal production worldwide, particularly in the Mediterranean Basin. Successful control of cereal cyst nematodes requires knowledge of the nematode species/pathotypes and their biology. However, little information is currently available concerning the phenotypic and genotypic variability of H. latipons populations in Turkey. This study analyzed the morphological/morphometric and genetic characteristics of Turkish H.
12p
dolomite36
30-12-2021
10
1
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Genotyping of the human leucocyte antigen (HLA) is indispensable for various medical treatments. However, unambiguous genotyping is technically challenging due to high polymorphism of the corresponding genomic region. Next-generation sequencing is changing the landscape of genotyping. In addition to high throughput of data, its additional advantage is that DNA templates are derived from single molecules, which is a strong merit for the phasing problem.
12p
vilarryellison
29-10-2021
11
0
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European ash trees (Fraxinus excelsior) are currently threatened by ash dieback (ADB) caused by the fungus Hymenoscyphus fraxineus but a small percentage of the population possesses natural low susceptibility. The genome of a European ash tree has recently been sequenced. Here, we present whole genome DNA methylation data for two F. excelsior genotypes with high susceptibility to ADB, and two genotypes with low susceptibility, each clonally replicated. We also include two genotypes of Manchurian ash (F. mandshurica), an ash species which has co-evolved with H.
15p
vibeauty
23-10-2021
8
1
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One of the approaches to detect genetics variants affecting fitness traits is to identify their surrounding genomic signatures of past selection. With established methods for detecting selection signatures and the current and future availability of large datasets, such studies should have the power to not only detect these signatures but also to infer their selective histories. Domesticated animals offer a powerful model for these approaches as they adapted rapidly to environmental and human-mediated constraints in a relatively short time.
17p
vibeauty
23-10-2021
11
1
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Common bean is an important staple crop in the tropics of Africa, Asia and the Americas. Particularly smallholder farmers rely on bean as a source for calories, protein and micronutrients. Drought is a major production constraint for common bean, a situation that will be aggravated with current climate change scenarios.
20p
vijeeni2711
30-06-2021
10
1
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Durum wheat (Triticum turgidum L. ssp. durum Desf. Husn) is the main staple crop used to make pasta products worldwide. Under the current climate change scenarios, genetic variability within a crop plays a crucial role in the successful release of new varieties with high yields and wide crop adaptation.
17p
vilichoo2711
23-06-2021
10
1
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The key-ancestor approach has been frequently applied to prioritize individuals for whole-genome sequencing based on their marginal genetic contribution to current populations. Using this approach, we selected 70 key ancestors from two lines of the Swiss Large White breed that have been selected divergently for fertility and fattening traits and sequenced their genomes with short paired-end reads.
14p
vilichoo2711
23-06-2021
11
0
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Speed congenics is an important tool for creating congenic mice to investigate gene functions, but current SNP genotyping methods for speed congenics are expensive. These methods usually rely on chip or array technologies, and a different assay must be developed for each backcross strain combination. “
12p
vilichoo2711
23-06-2021
14
1
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Influenza viruses are dangerous pathogens. Seventy-Seven genomes of recently emerged genotype 4 reassortant Eurasian avian-like H1N1 virus (G4-EA-H1N1) are currently available. We investigated the presence and variation of potential G-quadruplex forming sequences (PQS), which can serve as targets for antiviral treatment.
11p
vilichoo2711
25-06-2021
12
1
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