Search
Search Results
-
Predicting functional effect of missense variants using graph attention neural networks
Accurate prediction of damaging missense variants is critically important for interpreting a genome sequence. Although many methods have been...
-
In silico mutational analysis to identify the role and pathogenicity of BCL-w missense variants
BackgroundIntrinsic pathway of apoptosis is generally mediated by BCL-2 (B cell lymphoma 2) family of proteins; they either induce or inhibit the...
-
Missense variants in the TNFA epitopes and their effects on interaction with therapeutic antibodies—in silico analysis
BackgroundTumor necrosis factor alpha (TNFA) is an important cytokine that influences multiple biological processes. It is one of the key mediators...
-
In-Silico Analysis of the High-Risk Missense Variants in PTH1R Gene and Association with Primary Failure of Tooth Eruption (PFE)
Primary eruption failure (PFE) is a rare condition characterized by the cessation of tooth eruption posteriorly. Due to a mutation in the PTH1R gene,...
-
Whole Exome Analysis to Analyse the Mutational Profiles of Taiwanese Patients with Breast Cancer
The evolution that next sequencing technologies (NGS) and computational tools have witnessed led to the discovery of analyses such as whole-exome...
-
Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study
BackgroundSingle-nucleotide polymorphisms (SNPs) have a crucial function in affecting the susceptibility of individuals to diseases and also...
-
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients
BackgroundAplastic anemia (AA) is a bone marrow disorder characterized by peripheral pancytopenia and marrow hypoplasia which can lead to...
-
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients
BackgroundMethyl CpG binding protein 2 (MeCP2) is essential for the normal function of mature neurons. Mutations in the MECP2 gene are the main cause...
-
Graphene Channel Dielectric VTFET Biosensor for SARS-CoV-2: Modelling, Fabrication, Characterization and Its Investigation on Genomic Classification in Spike Proteins
AbstractThe rapid mutation that is taking place in the genome of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may have as an...
-
SMC1A-Related Developmental and Epileptic Encephalopathies: A Case Report and Literature Review
“Developmental and epileptic encephalopathies” (DEE) is a recently proposed term to refer to a group of rare and severe neurodevelopmental disorders...
-
In silico screening of non-synonymous SNPs in human TUFT1 gene
BackgroundTuftelin 1 ( TUFT1 ) gene is important in the development and mineralization of dental enamel. The study aimed to identify potential...
-
Implementation of Exome Sequencing to Identify Rare Genetic Diseases
Modern high-throughput genomic testing using next-generation sequencing (NGS) has led to a significant increase in the successful diagnosis of rare...
-
Defining the molecular pathology and consequent phenotypes in Egyptian HB patients
BackgroundHemophilia B (HB) (also known as Christmas disease) is a rare X-linked recessive disorder characterized by spontaneous or prolonged...
-
Computational approach for assessing the involvement of SMYD2 protein in human cancers using TCGA data
BackgroundSMYD2 is a protein of the SET and MYND domain-containing family SMYD. It can methylate the lysine residue of various histone and nonhistone...
-
A Naïve Approach for Mutation Detection Using Color Encodings and String Matching Techniques
Genome sequencing is one of the key areas of research that helps analyze the genome and contributes to the diagnosis of various diseases like cancer,...
-
Machine learning techniques for pathogenicity prediction of non-synonymous single nucleotide polymorphisms in human body
The rapidly growing human genetic variation data resulted from high-throughput genoty** and sequencing methods has motivated bioinformaticians to...
-
Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects
IntroductionMutations in GDAP1 (Ganglioside-induced differentiation-associated protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a...
-
Genetic characteristics of complete mtDNA genome sequence of Indonesian local rabbit (Oryctolagus cuniculus)
BackgroundIndonesian local rabbit ( Oryctolagus cuniculus ) is a local breed in Indonesia. We reveal the mitochondrial genome sequence of the...
-
Exome Sequencing Analysis of Familial Cases of Multiple Sclerosis and a Monozygotic Discordant Twin
Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease, which leads to neurodegenerative processes that cause neuron demyelination. MS...
-
Identification of Novel Functional Single Nucleotide Polymorphisms in the BRCA1 Gene of Breast Cancer Patients
Breast cancer is the most common cancer in women, making for one-third of all malignancies in females. Between 40 and 45 percent of instances of...
