Results 51 to 60 of about 1,221,818 (402)

Allele age and a test for selection on rare alleles [PDF]

open access: yesPhilosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 2000
An approximate expression for the probability distribution of the age of a neutral allele as a function of its frequency is derived for a population undergoing arbitrary changes in population size. A simple maximum–likelihood estimator of allele age based on frequency is also obtained.
openaire   +3 more sources

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022
Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers   +7 more
wiley   +1 more source

Molecular basis of D-negative phenotype (literature review and case reports)

open access: yesОнкогематология, 2015
The molecular basis of the D-negative phenotype formation in humans is presented in this article. Causes of true and false D-negative phenotype appearance are described.
L. L. Golovkina   +7 more
doaj   +1 more source

Assessment of rhesus and kell blood group antigens, phenotypes, and their allelic frequencies in North Indian blood donors

open access: yesAsian Journal of Transfusion Science, 2020
Background: Prevalence of rhesus (Rh) and Kell antigens in a population vary with race, ethnicity, and geographical location. With advances in immunohematology, non-D antigens, and their corresponding antibodies are increasingly being found to be ...
Sangeeta Pahuja   +5 more
doaj   +1 more source

Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis

open access: yesMedicine, 2015
Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and ...
Angel Carracedo   +3 more
openaire   +3 more sources

Evaluation of thrombospondin–1 gene polymorphisms in corneal allograft rejection in Asian Indian patients

open access: yesIndian Journal of Ophthalmology, 2020
Purpose: To evaluate the frequency and the association of Thrombospondin 1 (THBS1) gene single nucleotide polymorphisms (SNPs) in Asian Indian patients with optical full thickness corneal grafting surgery.
Murugesan Vanathi   +5 more
doaj   +1 more source

Diversity and Spread of Acetolactate Synthase Allelic Variants at Position 574 Endowing Resistance in Amaranthus hybridus in Italy

open access: yesPlants, 2023
Poor control of Amaranthus spp. with herbicides inhibiting acetolactate synthase (ALS) has been observed for several years in soybean fields in north-eastern Italy, but to date only a few ALS-resistant populations have been confirmed.
Andrea Milani   +5 more
doaj   +1 more source

Forward-backward algorithms with a biallelic mutation-drift model: Orthogonal polynomials, and a coalescent/urn-model based approach [PDF]

open access: yesarXiv, 2021
Inference of the marginal likelihood of sample allele configurations using backward algorithms yields identical results with the Kingman coalescent, the Moran model, and the diffusion model (up to a scaling of time). For inference of probabilities of ancestral population allele frequencies at any given point in the past - either of discrete ancestral ...
arxiv  

MIXALIME: MIXture models for ALlelic IMbalance Estimation in high-throughput sequencing data [PDF]

open access: yesarXiv, 2023
Modern high-throughput sequencing assays efficiently capture not only gene expression and different levels of gene regulation but also a multitude of genome variants. Focused analysis of alternative alleles of variable sites at homologous chromosomes of the human genome reveals allele-specific gene expression and allele-specific gene regulation by ...
arxiv  

Simple models of the chemical field around swimming plankton [PDF]

open access: yes, 2010
Background. Cervical cancer is the fourth most common cancer in women, and we recently reported human leukocyte antigen (HLA) alleles showing strong associations with cervical neoplasia risk and protection.
Bao, X   +33 more
core   +2 more sources

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