Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good

K Krebs, L Milani - Human genomics, 2019 - Springer
The field of pharmacogenomics (PGx) is gradually shifting from the reactive testing of single
genes toward the proactive testing of multiple genes to improve treatment outcomes, reduce …

Insights on variant analysis in silico tools for pathogenicity prediction

FAO Garcia, ES Andrade, EI Palmero - Frontiers in genetics, 2022 - frontiersin.org
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting
cheaper, but the interpretation of genetic variants requires expertise and computational …

Computational approaches for predicting variant impact: An overview from resources, principles to applications

Y Liu, WSB Yeung, PCN Chiu, D Cao - Frontiers in genetics, 2022 - frontiersin.org
One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

In Silico Tools for Analysis of Single-Nucleotide Polymorphisms in the Bovine Transferrin Gene

A Ali, MU Rehman, SM Ahmad, T Mehraj, I Hussain… - Animals, 2022 - mdpi.com
Simple Summary Subclinical mastitis represents a significant disease in dairy animals and
negatively impacts udder health. Genetics, pathogens, and poor health and management …

Pathogenicity assignment of variants in genes associated with cardiac channelopathies evolve toward diagnostic uncertainty

MB Rosamilia, IM Lu, AP Landstrom - Circulation: Genomic and …, 2022 - Am Heart Assoc
Background: Accurately determining variant pathogenicity is critical in the diagnosis of
cardiac channelopathies; however, it remains unknown how variant pathogenicity status …

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays

NA Khoruddin, MNF Noorizhab, LK Teh… - Scientific Reports, 2021 - nature.com
Single-nucleotide polymorphisms (SNPs) are the most common genetic variations for
various complex human diseases, including cancers. Genome-wide association studies …

Inferring the Effects of Protein Variants on Protein–Protein Interactions with Interpretable Transformer Representations

Z Liu, W Qian, W Cai, W Song, W Wang, DT Maharjan… - Research, 2023 - spj.science.org
Identifying pathogenetic variants and inferring their impact on protein–protein interactions
sheds light on their functional consequences on diseases. Limited by the availability of …

Genetic variation in EPHA contributes to sensitivity to paclitaxel‐induced peripheral neuropathy

LA Marcath, KM Kidwell, K Vangipuram… - British Journal of …, 2020 - Wiley Online Library
Aims Chemotherapy‐induced peripheral neuropathy (PN) is a treatment limiting toxicity of
paclitaxel. We evaluated if EPHA genetic variation (EPHA4, EPHA5, EPHA6, and EPHA8) is …

Case report: Combination of olaparib with chemotherapy in a patient with ATM-deficient colorectal cancer

GI Papageorgiou, E Fergadis, N Skouteris… - Frontiers in …, 2021 - frontiersin.org
Poly-ADP ribose polymerase (PARP) inhibitors are constantly increasing in their indications
for use as anti-cancer treatment in various neoplasms, the majority of which are linked with …

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

S Tamana, M Xenophontos, A Minaidou, C Stephanou… - Elife, 2022 - elifesciences.org
Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused
by variants in the globin gene clusters. With over 2400 variants detected to date, their …