Molecular dynamics: new frontier in personalized medicine
The field of drug discovery has witnessed infinite development over the last decade with the
demand for discovery of novel efficient lead compounds. Although the development of novel …
demand for discovery of novel efficient lead compounds. Although the development of novel …
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools
S Castellana, T Mazza - Briefings in bioinformatics, 2013 - academic.oup.com
A remarkable degree of genetic variation has been found in the protein-encoding regions of
DNA through deep sequencing of samples obtained from thousands of subjects from several …
DNA through deep sequencing of samples obtained from thousands of subjects from several …
A review study: computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases
Abstract Non-Synonymous Single-Nucleotide Variants (nsSNVs) and mutations can create a
diversity effect on proteins as changing genotype and phenotype, which interrupts its …
diversity effect on proteins as changing genotype and phenotype, which interrupts its …
[HTML][HTML] Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity
The human genetic diseases associated with many factors, one of these factors is the non-
synonymous Single Nucleotide Variants (nsSNVs) cause single amino acid change with …
synonymous Single Nucleotide Variants (nsSNVs) cause single amino acid change with …
Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors
YJ Lin, AS Menon, Z Hu, SE Brenner - Human Genomics, 2024 - Springer
Background Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …
VIPdb, a genetic variant impact predictor database
Genome sequencing identifies vast number of genetic variants. Predicting these variants'
molecular and clinical effects is one of the preeminent challenges in human genetics …
molecular and clinical effects is one of the preeminent challenges in human genetics …
The road from next-generation sequencing to personalized medicine
ML Gonzalez-Garay - Personalized medicine, 2014 - Taylor & Francis
Moving from a traditional medical model of treating pathologies to an individualized
predictive and preventive model of personalized medicine promises to reduce the …
predictive and preventive model of personalized medicine promises to reduce the …
Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach
Maturity-onset diabetes of the young type 3 (MODY3) is a non-ketotic form of diabetes
associated with poor insulin secretion. Over the past years, several studies have reported …
associated with poor insulin secretion. Over the past years, several studies have reported …
A systematic and comprehensive review on disease-causing genes in amyotrophic lateral sclerosis
E Srinivasan, R Rajasekaran - Journal of Molecular Neuroscience, 2020 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and is characterized by
degeneration and axon loss from the upper motor neuron, that descends from the lower …
degeneration and axon loss from the upper motor neuron, that descends from the lower …
Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe,
progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in …
progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in …