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Pharmacogenetics

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Deep learning in pharmacogenomics: from gene regulation to patient stratification.

Pharmacogenomics
This Perspective provides examples of current and future applications of deep learning in pharmacogenomics, including: identification of novel regulatory variants located in noncoding domains of the genome and their function as applied to pharmacoepi...

L1000FWD: fireworks visualization of drug-induced transcriptomic signatures.

Bioinformatics (Oxford, England)
MOTIVATION: As part of the NIH Library of Integrated Network-based Cellular Signatures program, hundreds of thousands of transcriptomic signatures were generated with the L1000 technology, profiling the response of human cell lines to over 20 000 sma...

HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders.

Genetics in medicine : official journal of the American College of Medical Genetics
Recent dramatic advances in multiomics research coupled with exponentially increasing volume, complexity, and interdisciplinary nature of publications are making it challenging for scientists to stay up-to-date on the literature. Strategies to addres...

PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs.

Nucleic acids research
One important aspect of precision medicine aims to deliver the right medicine to the right patient at the right dose at the right time based on the unique 'omics' features of each individual patient, thus maximizing drug efficacy and minimizing adver...

Contemporary pharmacogenetic assays in view of the PharmGKB database.

Pharmacogenomics
AIM: Six modern PGx assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) to determine the proportion of the currently known PGx genotypes that are assessed by these assays.

PGxO and PGxLOD: a reconciliation of pharmacogenomic knowledge of various provenances, enabling further comparison.

BMC bioinformatics
BACKGROUND: Pharmacogenomics (PGx) studies how genomic variations impact variations in drug response phenotypes. Knowledge in pharmacogenomics is typically composed of units that have the form of ternary relationships gene variant - drug - adverse ev...