Cargando…

In silico comparative characterization of pharmacogenomic missense variants

BACKGROUND: Missense pharmacogenomic (PGx) variants refer to amino acid substitutions that potentially affect the pharmacokinetic (PK) or pharmacodynamic (PD) response to drug therapies. The PGx variants, as compared to disease-associated variants, have not been investigated as deeply. The ability t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Biao, Seligman, Chet, Thusberg, Janita, Miller, Jackson L, Auer, Jim, Whirl-Carrillo, Michelle, Capriotti, Emidio, Klein, Teri E, Mooney, Sean D
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4092878/ https://www.ncbi.nlm.nih.gov/pubmed/25057096 http://dx.doi.org/10.1186/1471-2164-15-S4-S4

Ejemplares similares

PharmGKB: A worldwide resource for pharmacogenomic information
por: Barbarino, Julia M., et al.
Publicado: (2018)

An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics
por: Li, Binglan, et al.
Publicado: (2022)

An Evidence‐Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine
por: Whirl‐Carrillo, Michelle, et al.
Publicado: (2021)

Pharmacogenomics Clinical Annotation Tool (PharmCAT)
por: Sangkuhl, Katrin, et al.
Publicado: (2019)

The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge
por: Hernandez-Boussard, Tina, et al.
Publicado: (2008)

Analysis and Interpretation of the Impact of Missense Variants in Cancer
por: Petrosino, Maria, et al.
Publicado: (2021)

Prediction of CYP2D6 phenotype from genotype across world populations
por: Gaedigk, Andrea, et al.
Publicado: (2017)

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies
por: Catarzi, Serena, et al.
Publicado: (2013)

The Evolution of PharmVar
por: Gaedigk, Andrea, et al.
Publicado: (2018)

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database
por: Gaedigk, Andrea, et al.
Publicado: (2017)

PharmCAT: A Pharmacogenomics Clinical Annotation Tool
por: Klein, Teri E., et al.
Publicado: (2017)

The complex impact of cancer-related missense mutations on the stability and on the biophysical and biochemical properties of MAPK1 and MAPK3 somatic variants
por: Petrosino, Maria, et al.
Publicado: (2023)

Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process
por: Caudle, Kelly E., et al.
Publicado: (2014)

Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants
por: Masica, David L., et al.
Publicado: (2016)

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1
por: Caswell, Richard C, et al.
Publicado: (2019)

Decoding of novel missense TSC2 gene variants using in-silico methods
por: Sudarshan, Shruthi, et al.
Publicado: (2019)

Missense variants in the TNFA epitopes and their effects on interaction with therapeutic antibodies—in silico analysis
por: Ahsan, Tamim, et al.
Publicado: (2022)

In silico mutational analysis to identify the role and pathogenicity of BCL-w missense variants
por: Kumari, Poonam, et al.
Publicado: (2022)

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
por: Wheway, Gabrielle, et al.
Publicado: (2019)

Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases
por: Michels, Marcus, et al.
Publicado: (2019)

The functional importance of disease-associated mutation
por: Mooney, Sean D, et al.
Publicado: (2002)

PGxMine: Text mining for curation of PharmGKB
por: Lever, Jake, et al.
Publicado: (2020)

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2017)

Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
por: Nykamp, Keith, et al.
Publicado: (2019)

Pharmacogene Variation Consortium Gene Introduction: NUDT15
por: Yang, Jun J., et al.
Publicado: (2018)

Functional in silico analysis of missense mutations in the MSH6 gene
por: Gajdel, Katarzyna, et al.
Publicado: (2015)

Using ODIN for a PharmGKB revalidation experiment
por: Rinaldi, Fabio, et al.
Publicado: (2012)

In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification
por: Accetturo, Matteo, et al.
Publicado: (2020)

VarI-SIG 2014 - From SNPs to variants: interpreting different types of genetic variants
por: Bromberg, Yana, et al.
Publicado: (2015)

In silico analysis of BRCA1 and BRCA2 missense variants and the relevance in molecular genetic testing
por: Poon, Kok-Siong
Publicado: (2021)

Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants
por: Borges, Pâmella, et al.
Publicado: (2021)

In silico analyses of deleterious missense SNPs of human apolipoprotein E3
por: Pires, Allan S., et al.
Publicado: (2017)

Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population
por: Verma, Shefali S., et al.
Publicado: (2022)

In silico Drug Repurposing to combat COVID-19 based on Pharmacogenomics of Patient Transcriptomic Data
por: Das, Shaoli, et al.
Publicado: (2020)

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
por: Ernst, Corinna, et al.
Publicado: (2018)

A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein
por: Khan, Auroni Semonti, et al.
Publicado: (2022)

In silico analysis of missense variants of the C1qA gene related to infection and autoimmune diseases
por: Behairy, Mohammed Y., et al.
Publicado: (2022)

PhD-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants
por: Capriotti, Emidio, et al.
Publicado: (2023)

SNP-SIG 2013: from coding to non-coding - new approaches for genomic variant interpretation
por: Bromberg, Yana, et al.
Publicado: (2014)

PhD-SNP(g): a webserver and lightweight tool for scoring single nucleotide variants
por: Capriotti, Emidio, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_hghg3ojlscjm033l0la5ns5bki