Cargando…

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population

It is well documented that drug responses are related to Absorption, Distribution, Metabolism, and Excretion (ADME) characteristics of individual patients. Several studies have identified genetic variability in pharmacogenes, that are either directly responsible for or are associated with ADME, givi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Goljan, Ewa, Abouelhoda, Mohammed, ElKalioby, Mohamed M., Jabaan, Amjad, Alghithi, Nada, Meyer, Brian F., Monies, Dorota
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8797234/ https://www.ncbi.nlm.nih.gov/pubmed/35089958 http://dx.doi.org/10.1371/journal.pone.0263137

Ejemplares similares

Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
por: Al-Mubarak, Bashayer, et al.
Publicado: (2017)

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
por: Abouelhoda, Mohamed, et al.
Publicado: (2021)

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots
por: Al-Mousa, Hamoud, et al.
Publicado: (2018)

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease
por: Yemni, Eman Al, et al.
Publicado: (2019)

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
por: Monies, Dorota, et al.
Publicado: (2016)

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
por: Bohlega, Saeed A., et al.
Publicado: (2016)

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
por: Al-Mubarak, Bashayer R., et al.
Publicado: (2020)

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
por: Owaidah, Tarek, et al.
Publicado: (2019)

The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort
por: Al Ammari, Maha, et al.
Publicado: (2020)

Molecular classification of blood and bleeding disorder genes
por: Baz, Batoul, et al.
Publicado: (2021)

Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
por: Al-Hamed, Mohamed H, et al.
Publicado: (2016)

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
por: Alsemari, Abdulaziz, et al.
Publicado: (2017)

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
por: Alsemari, Abdulaziz, et al.
Publicado: (2017)

The clinical utility of rapid exome sequencing in a consanguineous population
por: Monies, Dorota, et al.
Publicado: (2023)

WAMI: a web server for the analysis of minisatellite maps
por: Abouelhoda, Mohamed, et al.
Publicado: (2010)

Computational Methods for the Pharmacogenetic Interpretation of Next Generation Sequencing Data
por: Zhou, Yitian, et al.
Publicado: (2018)

Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
por: Dasouki, Majed, et al.
Publicado: (2021)

Revisiting the morbid genome of Mendelian disorders
por: Abouelhoda, Mohamed, et al.
Publicado: (2016)

Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling
por: Huebner, Tatjana, et al.
Publicado: (2023)

A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data
por: Lanillos, Javier, et al.
Publicado: (2020)

Identification of a novel genetic locus underlying tremor and dystonia
por: Monies, Dorota, et al.
Publicado: (2017)

Acceptance and Associated Risk Factors of Human Papillomavirus Vaccine Among Parents of Daughters in Intermediate Schools in Tabuk City, Saudi Arabia
por: Alaamri, Atheer M, et al.
Publicado: (2023)

Variant Interpretation in Current Pharmacogenetic Testing
por: Luvsantseren, Sally, et al.
Publicado: (2020)

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
por: Alharbi, Norah, et al.
Publicado: (2022)

Personalized cloud-based bioinformatics services for research and education: use cases and the elasticHPC package
por: El-Kalioby, Mohamed, et al.
Publicado: (2012)

Knowledge, perception, and confidence of hospital pharmacists toward pharmacogenetics in Jeddah, Kingdom of Saudi Arabia
por: Bagher, Amina M., et al.
Publicado: (2021)

Use of Pharmacogenetic Drugs by the Dutch Population
por: Alshabeeb, Mohammad A., et al.
Publicado: (2019)

Streaming Support for Data Intensive Cloud-Based Sequence Analysis
por: Issa, Shadi A., et al.
Publicado: (2013)

Clinical and genetic features of anoctaminopathy in Saudi Arabia
por: Bohlega, Saeed, et al.
Publicado: (2015)

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients
por: Tecza, Karolina, et al.
Publicado: (2018)

Pharmacogenetics implementation in the clinics: information and guidelines for germline variants
por: Olivera, Gladys, et al.
Publicado: (2019)

Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?
por: Olivera, Gladys G., et al.
Publicado: (2021)

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
por: BOHLEGA, SAEED A., et al.
Publicado: (2018)

Favipiravir Effectiveness and Safety in Hospitalized Moderate-Severe COVID-19 Patients: Observational Prospective Multicenter Investigation in Saudi Arabia
por: Al-Muhsen, Saleh, et al.
Publicado: (2022)

Gene-Wise Burden of Coding Variants Correlates to Noncoding Pharmacogenetic Risk Variants
por: Park, Jihye, et al.
Publicado: (2020)

Knowledge of and attitude towards epilepsy among university students in Saudi Arabia: Misconceptions of the next generation
por: Hakami, Tahir, et al.
Publicado: (2021)

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel
por: AlHarbi, Musa, et al.
Publicado: (2023)

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature
por: Alsmadi, Osama, et al.
Publicado: (2009)

Integrating rare genetic variants into pharmacogenetic drug response predictions
por: Ingelman-Sundberg, Magnus, et al.
Publicado: (2018)

An optimized prediction framework to assess the functional impact of pharmacogenetic variants
por: Zhou, Yitian, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_qa7nujblegg47ab5pidbdjhidc