Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good
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 …
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 …
cheaper, but the interpretation of genetic variants requires expertise and computational …
Computational approaches for predicting variant impact: An overview from resources, principles to applications
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 …
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
Simple Summary Subclinical mastitis represents a significant disease in dairy animals and
negatively impacts udder health. Genetics, pathogens, and poor health and management …
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 …
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 …
various complex human diseases, including cancers. Genome-wide association studies …
Inferring the Effects of Protein Variants on Protein–Protein Interactions with Interpretable Transformer Representations
Identifying pathogenetic variants and inferring their impact on protein–protein interactions
sheds light on their functional consequences on diseases. Limited by the availability of …
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 …
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 …
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
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 …
by variants in the globin gene clusters. With over 2400 variants detected to date, their …