Genome interpretation using in silico predictors of variant impact

P Katsonis, K Wilhelm, A Williams, O Lichtarge - Human genetics, 2022 - Springer
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Cytochrome P450: genotype to phenotype

RH Waring - Xenobiotica, 2020 - Taylor & Francis
The cytochromes P450 comprise a family of enzymes that are responsible for around three-
quarters of all drug metabolism reactions that occur in human populations. Many isoforms of …

[HTML][HTML] Pharmacogenomics of GPCR drug targets

AS Hauser, S Chavali, I Masuho, LJ Jahn… - Cell, 2018 - cell.com
Natural genetic variation in the human genome is a cause of individual differences in
responses to medications and is an underappreciated burden on public health. Although …

An optimized prediction framework to assess the functional impact of pharmacogenetic variants

Y Zhou, S Mkrtchian, M Kumondai… - The …, 2019 - nature.com
Prediction of phenotypic consequences of mutations constitutes an important aspect of
precision medicine. Current computational tools mostly rely on evolutionary conservation …

Prediction and interpretation of deleterious coding variants in terms of protein structural stability

F Ancien, F Pucci, M Godfroid, M Rooman - Scientific reports, 2018 - nature.com
The classification of human genetic variants into deleterious and neutral is a challenging
issue, whose complexity is rooted in the large variety of biophysical mechanisms that can be …

Computational methods for the pharmacogenetic interpretation of next generation sequencing data

Y Zhou, K Fujikura, S Mkrtchian… - Frontiers in …, 2018 - frontiersin.org
Up to half of all patients do not respond to pharmacological treatment as intended. A
substantial fraction of these inter-individual differences is due to heritable factors and a …

Computational assessment of the pharmacological profiles of degradation products of chitosan

DL Roman, M Roman, C Som, M Schmutz… - … in bioengineering and …, 2019 - frontiersin.org
Chitosan is a natural polymer revealing an increased potential to be used in different
biomedical applications, including drug delivery systems, and tissue engineering. It implies …

A review study: computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases

MS Hassan, AA Shaalan, MI Dessouky… - Gene, 2019 - Elsevier
Abstract Non-Synonymous Single-Nucleotide Variants (nsSNVs) and mutations can create a
diversity effect on proteins as changing genotype and phenotype, which interrupts its …

Technologies and computational analysis strategies for CRISPR applications

K Clement, JY Hsu, MC Canver, JK Joung, L Pinello - Molecular cell, 2020 - cell.com
The CRISPR-Cas system offers a programmable platform for eukaryotic genome and
epigenome editing. The ability to perform targeted genetic and epigenetic perturbations …

[HTML][HTML] Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity

MS Hassan, AA Shaalan, MI Dessouky… - Genomics, 2019 - Elsevier
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 …