Single genotype

In this study, we established the relationship between male infertility and single nucleotide polymorphisms (SNPs) of TDRD1 (rs541192490, rs77559927) among 310 Vietnamese men (160 infertile patients and 150 healthy controls). Genotypes of single nucleotide polymorphisms of the TDRD1 gene (SNPs) were identified using the PCR-RFLP method.

9p dianmotminh02 03-05-2024 1 1   Download

This study aimed to assess the association of single nucleotide polymorphism (SNP) TEX15 rs323347 with male infertile individuals in a Vietnamese cohort and further analyze the haplotypes of TEX15 rs323346 and TEX15 rs323347. A total of 401 unrelated males, including 202 male infertility patients and 199 healthy controls were genotyped for TEX15 rs323347 using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP).

7p dianmotminh02 03-05-2024 5 1   Download

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   Download

Immune checkpoint blockade (ICB) with antibodies inhibiting cytotoxic T lymphocyte-associated protein-4 (CTLA-4) and programmed cell death protein-1 (PD-1) (or its ligand (PD-L1)) can stimulate immune responses against cancer and have revolutionized the treatment of tumors.

13p vibransone 28-03-2024 8 2   Download

Drawing genotype-to-phenotype maps in tumors is of paramount importance for understanding tumor heterogeneity. Assignment of single cells to their tumor clones of origin can be approached by matching the genotypes of the clones to the mutations found in RNA sequencing of the cells.

16p vibransone 28-03-2024 2 1   Download

Colorectal cancer (CRC) ranks as the second-leading cause of cancer-related death worldwide with metastases being the main cause of cancer-related death. Here, we investigated the genomic and transcriptomic alterations in matching adjacent normal tissues, primary tumors, and metastatic tumors of CRC patients.

26p viellison 28-03-2024 5 2   Download

Ebook "Evolutionary biology: Biodiversification from genotype to phenotype" presents 20 selected contributions to the 18th Evolutionary Biology Meeting, which took place in September 2014 in Marseille. The aims of these annual meetings in Marseille are to bring together leading evolutionary biologists and other scientists who employ evolutionary biology concepts, e.g. for medical research, and to promote the exchange of ideas and encourage interdisciplinary collaborations.

406p manmanthanhla0201 26-02-2024 2 1   Download

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   Download

Human papillomavirus (HPV) has been confirmed as a major causative factor for malignant transformation of cervical epithelial cells and for the development of cervical intraepithelial neoplasia (CIN) and invasive cervical cancer. We carried out this study to investigate the association of different HPV genotypes and ages with immediate histological cervical lesions in opportunistic screening patients in a single center.

10p vileonardodavinci 23-12-2023 7 3   Download

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   Download

This study aimed to estimate the allelic and genotypic frequencies of single nucleotide polymorphisms (SNPs) of MC4R (melanocortin-4- receptor gene) and PIT1 (pituitary specific transcription factor-1) genes, and their additive dominance genetic effects on production and carcass traits in Duroc pigs.

7p viengels 25-08-2023 9 2   Download

Major advances in genotyping technology have generated high-density maps of single nucleotide polymorphism (SNP) markers that provide an unprecedented opportunity to identify genes underlying complex traits. Several family-based statistical methods showing robust population stratification have been developed to test the association between multiple markers and disease-susceptibility genes.

6p vinarcissa 21-03-2023 2 1   Download

To investigate the associations between atorvastatin-induced liver injury (AILI) and polymorphisms in eight genes possibly involved in the hepatic metabolism (CYP2C9, CYP2C19, CYP3A4, CYP3A5 and UGT1A1) and membrane transport (ABCB1, ABCG2 and SLCO1B1) of atorvastatin, we genotyped 30 AILI and 414 non-AILI patients recruited at BioBank Japan for 15 single nucleotide polymorphisms (SNPs).

6p vinarcissa 21-03-2023 1 1   Download

Accurate genotype calling for high throughput Illumina data is an important step to extract more genetic information for a large scale genome wide association studies. Many popular calling algorithms use mixture models to infer genotypes of a large number of single nucleotide polymorphisms in a fast and efficient way.

9p vinarcissa 21-03-2023 3 1   Download

The advent of next-generation sequencing has brought about an explosion of single nucleotide polymorphism (SNP) data in non-model organisms; however, profiling these SNPs across multiple natural populations still requires substantial time and resources.

13p vinarcissa 21-03-2023 4 1   Download

Genotyping-by-sequencing (GBS) has emerged as a powerful and cost-effective approach for discovering and genotyping single-nucleotide polymorphisms. The GBS technique was largely used in crop species where its low sequence coverage is not a drawback for calling genotypes because inbred lines are almost homozygous.

14p vinarcissa 21-03-2023 3 1   Download

The use of multiple genetic backgrounds across years is appealing for genomic prediction (GP) because past years’ data provide valuable information on marker effects. Nonetheless, single-year GP models are less complex and computationally less demanding than multi-year GP models.

17p vinarcissa 21-03-2023 7 1   Download

Identification of the genomic signatures of recent selection may help uncover causal polymorphisms controlling traits relevant to recent decades of selective breeding in livestock. In this study, we aimed at detecting signatures of recent selection in commercial broiler chickens using genotype information from single nucleotide polymorphisms (SNPs).

10p vinarcissa 21-03-2023 2 1   Download

The soil borne, obligate biotrophic fungus Synchytrium endobioticum causes tumor-like tissue proliferation (wart) in potato tubers and thereby considerable crop damage. Chemical control is not effective and unfriendly to the environment. S. endobioticum is therefore a quarantined pathogen. The emergence of new pathotypes of the fungus aggravate this agricultural problem.

16p vinarcissa 21-03-2023 5 1   Download

Soil phosphorus (P) deficiency is one of the major limiting factors to crop production. The development of crop varieties with improved P use efficiency (PUE) is an important strategy for sustainable agriculture.

15p vinarcissa 21-03-2023 4 1   Download