Whole exome-genome sequencing - Open Access .click

Results 91 to 100 of about 79,064 (227)

UMOD Genotype and Clinical Outcomes in Heart Failure Patients Treated with Loop Diuretics: A UK Biobank Pharmacogenetic Cohort Study

Clinical Pharmacology &Therapeutics, EarlyView.
Uromodulin (UMOD) regulates tubular sodium handling and modulates NKCC2, the molecular target of loop diuretics (LD). Although UMOD variants have been associated with blood pressure and hypertension, their pharmacogenetic relevance in heart failure (HF) remains unknown.
Reinhold Kreutz +5 more
wiley +1 more source

Characterization of NAT2 Using Long‐Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies

Clinical Pharmacology &Therapeutics, EarlyView.
The NAT2 pharmacogene is essential in drug metabolism, particularly for aromatic amines and hydrazines. Genetic variations in NAT2 categorize individuals as rapid, intermediate, or poor metabolizers based on their acetylation capacity to inform dosing guidelines.
Shobana John +4 more
wiley +1 more source

Dihydropyrimidine Dehydrogenase Genotype–Phenotype Correlations in Plasma and Peripheral Blood Mononuclear Cells

Clinical Pharmacology &Therapeutics, EarlyView.
The chemotherapeutic 5‐fluorouracil (5‐FU) is commonly used to treat solid tumors, especially colorectal cancer. Deleterious variants in DPYD, which encodes dihydropyrimidine dehydrogenase (DPD), are strongly associated with severe and potentially lethal 5‐FU toxicity.
Brianna M. Bembenek +4 more
wiley +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela +7 more
wiley +1 more source

Evaluation of potential of targeted sequencing through mutational signature simulation.

PLoS ONE
BackgroundTargeted sequencing is critical in cancer diagnosis, treatment selection, and monitoring. However, the effectiveness of these methods for reflecting whole-exome sequencing (WES)-level mutational signatures remains unclear.
Keisuke Kodama +4 more
doaj +1 more source

Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis

Epilepsia, EarlyView.
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

npj Genomic Medicine
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Claude Bhérer +20 more
doaj +1 more source

Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano +15 more
wiley +1 more source

Deep whole genome sequencing of epileptogenic brain lesions

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development and low‐grade epilepsy‐associated tumors often cause drug‐resistant lesional focal epilepsy (LFE) amenable to surgical treatment. Genetic testing of resected brain tissue can provide diagnostic and mechanistic information and may eventually support personalized treatment approaches.
Christian M. Boßelmann +17 more
wiley +1 more source

medicine
whole exome sequencing
science

whole genome sequencing
whole-exome sequencing
whole-genome sequencing