Journal of cancer research and clinical oncology
Feb 4, 2019
PURPOSE: Reliable and accurate predictive models are necessary to drive the success of radiomics. Our aim was to identify the optimal radiomics-based machine learning method for isocitrate dehydrogenase (IDH) genotype prediction in diffuse gliomas.
Genetics in medicine : official journal of the American College of Medical Genetics
Jan 24, 2019
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision...
Forensic science, medicine, and pathology
Jan 16, 2019
Single nucleotide polymorphism (SNP) profiling is an effective means of individual identification and ancestry inferences in forensic genetics. This study established a SNP panel for the simultaneous individual identification and ancestry assignment ...
Syndromic genetic conditions, in aggregate, affect 8% of the population. Many syndromes have recognizable facial features that are highly informative to clinical geneticists. Recent studies show that facial analysis technologies measured up to the ca...
Diagnostic microbiology and infectious disease
Dec 30, 2018
Pyrazinamide (PZA) is a key antibiotic for the treatment of drug susceptible tuberculosis. PZA-resistance is mainly mediated by mutations in the pncA gene; however the current gold standard is a phenotypic drug susceptibility test requiring a well-ad...
BACKGROUND: Phenoconversion is a phenomenon whereby some genotypic extensive metabolizers transiently exhibit drug metabolizing enzyme activity at similar level as that of poor metabolizers. Renal failure is known to decrease CYP3A activity in humans...
BACKGROUND: Human Down syndrome (DS) is usually caused by genomic micro-duplications and dosage imbalances of human chromosome 21. It is associated with many genomic and phenotype abnormalities. Even though human DS occurs about 1 per 1,000 births wo...
Expert review of gastroenterology & hepatology
Nov 13, 2018
BACKGROUND: The present study aimed at evaluation of changes in estimated glomerular filtration rate (eGFR) among chronic Hepatitis C virus (HCV) patients with chronic kidney disease (CKD) Stages 3-5 who were treated with 12 weeks of ritonavir-booste...
The manifestation of complex traits is influenced by gene-gene and gene-environment interactions, and the identification of multifactor interactions is an important but challenging undertaking for genetic studies. Many complex phenotypes such as dise...
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
Oct 25, 2018
OBJECTIVES: To evaluate the association of mannose-binding lectin (MBL) deficiency with susceptibility and clinical features of group B Streptococcus (GBS) causing meningitis in Chinese infants.