Association of rare protein-truncating DNA variants in APOB or PCSK9 with low-density lipoprotein cholesterol level and risk of coronary heart disease
Importance Protein-truncating variants (PTVs) in apolipoprotein B (APOB) and proprotein
convertase subtilisin/kexin type 9 (PCSK9) are associated with significantly lower low …
convertase subtilisin/kexin type 9 (PCSK9) are associated with significantly lower low …
PharmGWAS: a GWAS-based knowledgebase for drug repurposing
Leveraging genetics insights to promote drug repurposing has become a promising and
active strategy in pharmacology. Indeed, among the 50 drugs approved by FDA in 2021, two …
active strategy in pharmacology. Indeed, among the 50 drugs approved by FDA in 2021, two …
Adjusting for common variant polygenic scores improves yield in rare variant association analyses
With the emergence of large-scale sequencing data, methods for improving power in rare
variant association tests are needed. Here we show that adjusting for common variant …
variant association tests are needed. Here we show that adjusting for common variant …
[HTML][HTML] Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data
J Lanillos, M Carcajona, P Maietta, S Alvarez… - npj Genomic …, 2022 - nature.com
Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness
of repurposing large-scale next-generation sequencing data for pharmacogenetics has …
of repurposing large-scale next-generation sequencing data for pharmacogenetics has …
[PDF][PDF] An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
Understanding dosage sensitivity or why Mendelian diseases have dominant vs. recessive
modes of inheritance is crucial for uncovering the etiology of human disease. Previous …
modes of inheritance is crucial for uncovering the etiology of human disease. Previous …
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank
Pharmacogenomics (PGx) is an integral part of precision medicine and contributes to the
maximization of drug efficacy and reduction of adverse drug event risk. Accurate information …
maximization of drug efficacy and reduction of adverse drug event risk. Accurate information …
RNA interference in the era of nucleic acid therapeutics
V Jadhav, A Vaishnaw, K Fitzgerald, MA Maier - Nature Biotechnology, 2024 - nature.com
Two decades of research on RNA interference (RNAi) have transformed a breakthrough
discovery in biology into a robust platform for a new class of medicines that modulate mRNA …
discovery in biology into a robust platform for a new class of medicines that modulate mRNA …
[PDF][PDF] CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank
T Fitzgerald, E Birney - Cell Genomics, 2022 - cell.com
Copy number variation (CNV) is known to influence human traits, having a rich history of
research into common and rare genetic disease, and although CNV is accepted as an …
research into common and rare genetic disease, and although CNV is accepted as an …
[HTML][HTML] Human exome sequencing and prospects for predictive medicine: analysis of international data and own experience
OS Glotov, AN Chernov, AS Glotov - Journal of Personalized Medicine, 2023 - mdpi.com
Today, whole-exome sequencing (WES) is used to conduct the massive screening of
structural and regulatory genes in order to identify the allele frequencies of disease …
structural and regulatory genes in order to identify the allele frequencies of disease …
[PDF][PDF] Systematic elucidation of genetic mechanisms underlying cholesterol uptake
Genetic variation contributes greatly to LDL cholesterol (LDL-C) levels and coronary artery
disease risk. By combining analysis of rare coding variants from the UK Biobank and …
disease risk. By combining analysis of rare coding variants from the UK Biobank and …