User profiles for Seyed Yahya Anvar
Yahya AnvarDept. Human Genetics & Dept. Clinical Pharmacy and Toxicology, Leiden University … Verified email at lumc.nl Cited by 1843 |
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories
RNA sequencing is an increasingly popular technology for genome-wide analysis of
transcript sequence and abundance. However, understanding of the sources of technical and …
transcript sequence and abundance. However, understanding of the sources of technical and …
Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data
Pharmacogenomics is a key component of personalized medicine that promises safer and
more effective drug treatment by individualizing drug choice and dose based on genetic …
more effective drug treatment by individualizing drug choice and dose based on genetic …
[HTML][HTML] Coping with living in the soil: the genome of the parthenogenetic springtail Folsomia candida
Background Folsomia candida is a model in soil biology, belonging to the family of Isotomidae,
subclass Collembola. It reproduces parthenogenetically in the presence of Wolbachia, …
subclass Collembola. It reproduces parthenogenetically in the presence of Wolbachia, …
[HTML][HTML] Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
Background The multifaceted control of gene expression requires tight coordination of
regulatory mechanisms at transcriptional and post-transcriptional level. Here, we studied the …
regulatory mechanisms at transcriptional and post-transcriptional level. Here, we studied the …
Flexible and scalable full‐length CYP2D6 long amplicon PacBio sequencing
HPJ Buermans, RHAM Vossen, SY Anvar… - Human …, 2017 - Wiley Online Library
Cytochrome P450 2D6 (CYP2D6) is among the most important genes involved in drug
metabolism. Specific variants are associated with changes in the enzyme's amount and activity. …
metabolism. Specific variants are associated with changes in the enzyme's amount and activity. …
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic …
C Trollet, SY Anvar, A Venema… - Human molecular …, 2010 - academic.oup.com
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by
ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a …
ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a …
[HTML][HTML] Complete genome sequence of the Clostridium difficile laboratory strain 630Δerm reveals differences from strain 630, including translocation of the mobile element CTn …
Background Clostridium difficile strain 630Δerm is a spontaneous erythromycin sensitive
derivative of the reference strain 630 obtained by serial passaging in antibiotic-free media. It is …
derivative of the reference strain 630 obtained by serial passaging in antibiotic-free media. It is …
Gene Family Evolution Reflects Adaptation to Soil Environmental Stressors in the Genome of the Collembolan Orchesella cincta
Collembola (springtails) are detritivorous hexapods that inhabit the soil and its litter layer.
The ecology of the springtail Orchesella cincta is extensively studied in the context of …
The ecology of the springtail Orchesella cincta is extensively studied in the context of …
Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing
…, DJM Peters, M Losekoot, SY Anvar - Human …, 2017 - Wiley Online Library
A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is challenging
due to allelic heterogeneity, high GC content, and homology of the PKD1 gene with six …
due to allelic heterogeneity, high GC content, and homology of the PKD1 gene with six …
[HTML][HTML] Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle
The use of pharmacogenomics in clinical practice is becoming standard of care. However,
due to the complex genetic makeup of pharmacogenes, not all genetic variation is currently …
due to the complex genetic makeup of pharmacogenes, not all genetic variation is currently …