A general statistic to test an optimally weighted combination of common and/or rare variants
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22255
Abstract: Both genome‐wide association study and next‐generation sequencing data analyses are widely employed to identify disease susceptible common and/or rare genetic variants. Rare variants generally have large effects though they are hard to detect due to… read more here.
Keywords: optimally weighted; common rare; rare variants; test ... See more keywords
Combination antibiotics against Pseudomonas aeruginosa, representing common and rare cystic fibrosis strains from different Irish clinics
Sign Up to like & getrecommendations! Published in 2018 at "Heliyon"
DOI: 10.1016/j.heliyon.2018.e00562
Abstract: Objectives To evaluate the effect of antibiotic combination therapy versus single therapy against cystic fibrosis strains of Pseudomonas aeruginosa identified as common and rare among patient groups in different Irish hospitals. Methods This study compares… read more here.
Keywords: combination; cystic fibrosis; fibrosis strains; pseudomonas aeruginosa ... See more keywords
Common and rare variants in HFE are not associated with Parkinson's disease in Europeans
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of aging"
DOI: 10.1016/j.neurobiolaging.2021.05.019
Abstract: A recent study suggested that the p.H63D variant in HFE, a gene involved in iron homeostasis, may modify α-synuclein pathology, the pathological hallmark of Parkinson's disease (PD). If indeed this gene and specific variant are… read more here.
Keywords: common rare; variants hfe; parkinson disease;
Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Psychiatry"
DOI: 10.1038/mp.2017.214
Abstract: This corrects the article DOI: 10.1038/mp.2016.97 read more here.
Keywords: genome wide; wide common; variant analysis; common rare ... See more keywords
New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-23074-2
Abstract: To identify novel loci for susceptibility to MetS, we conducted genome-wide association and exome wide association studies consisting of a discovery stage cohort (KARE, 1946 cases and 6427 controls), and a replication stage cohort (HEXA,… read more here.
Keywords: variants influencing; influencing metabolic; common rare; rare variants ... See more keywords
In vitro activity of rezafungin against common and rare Candida species and Saccharomyces cerevisiae
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Antimicrobial Chemotherapy"
DOI: 10.1093/jac/dkz390
Abstract: Abstract Background Rezafungin is a novel echinocandin with excellent activity against common Candida species; however, limited data are available regarding rare Candida species. Methods We determined the in vitro susceptibility of 689 clinical isolates of… read more here.
Keywords: saccharomyces cerevisiae; candida; rare candida; common rare ... See more keywords
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
Sign Up to like & getrecommendations! Published in 2021 at "Rheumatology"
DOI: 10.1093/rheumatology/keab327
Abstract: OBJECTIVES Gout, caused by chronic elevation of serum uric acid levels, is the commonest form of inflammatory arthritis. The causative effect of common and rare variants of ATP-binding cassette transporter G2 (ABCG2/BCRP) on gout risk… read more here.
Keywords: dysfunctional variants; substantial anti; variants urat1; effect ... See more keywords
Functional non-synonymous variants of ABCG2 and gout risk
Sign Up to like & getrecommendations! Published in 2017 at "Rheumatology"
DOI: 10.1093/rheumatology/kex295
Abstract: Objectives Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In… read more here.
Keywords: risk; variants abcg2; common rare; gout ... See more keywords
Imaging Review of Common and Rare Causes of Stroke in Children
Sign Up to like & getrecommendations! Published in 2018 at "Topics in Magnetic Resonance Imaging"
DOI: 10.1097/rmr.0000000000000183
Abstract: Abstract Vascular injury is increasingly recognized as an important cause of mortality and morbidity in children (29 days to 18 years of age). Since vascular brain injury in children appears to be less common than… read more here.
Keywords: pediatric stroke; rare causes; review common; common rare ... See more keywords
Common and rare genetic risk variants in age‐related macular degeneration and genetic risk score in the Coimbra eye study
Sign Up to like & getrecommendations! Published in 2022 at "Acta Ophthalmologica"
DOI: 10.1111/aos.15232
Abstract: To determine the contribution of common and rare genetic variants in age‐related macular degeneration (AMD) in a Portuguese population from the Coimbra Eye Study (CES), and the genetic risk score (GRS). read more here.
Keywords: common rare; age related; rare genetic; risk ... See more keywords
Common and rare variants in patients with early onset drusen maculopathy
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14212
Abstract: Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes of EODM are not well studied. We performed whole genome sequencing in… read more here.
Keywords: rare variants; common rare; early onset; drusen maculopathy ... See more keywords