Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.1061
Abstract: Importance Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.… read more here.
Keywords: hypertrophic cardiomyopathy; rare common; genetic variants; hcm ... See more keywords
Detecting association of rare and common variants based on cross‐validation prediction error
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22034
Abstract: Despite the extensive discovery of disease‐associated common variants, much of the genetic contribution to complex traits remains unexplained. Rare variants may explain additional disease risk or trait variability. Although sequencing technology provides a supreme opportunity… read more here.
Keywords: based cross; cross validation; common variants; association rare ... See more keywords
A rarefaction approach for measuring population differences in rare and common variation
Sign Up to like & getrecommendations! Published in 2023 at "Genetics"
DOI: 10.1093/genetics/iyad070
Abstract: Abstract In studying allele-frequency variation across populations, it is often convenient to classify an allelic type as “rare,” with nonzero frequency less than or equal to a specified threshold, “common,” with a frequency above the… read more here.
Keywords: rare common; frequency; common variation; variation ... See more keywords
Zeta diversity differentiates factors driving community assembly of rare and common ectomycorrhizal fungi
Sign Up to like & getrecommendations! Published in 2023 at "Molecular Ecology"
DOI: 10.1111/mec.16860
Abstract: A fundamental goal in community ecology is to understand what factors drive community assembly processes. The factors affecting ectomycorrhizal fungal communities are unknown in many regions, particularly in the southern hemisphere. We investigate community assembly… read more here.
Keywords: ecology; rare common; community; zeta diversity ... See more keywords
Rare and Common Variants Conferring Risk of Tooth Agenesis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Dental Research"
DOI: 10.1177/0022034517750109
Abstract: We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European… read more here.
Keywords: tooth agenesis; risk; common variants; conferring risk ... See more keywords
How rare and common risk variation jointly affect liability for autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Autism"
DOI: 10.1186/s13229-021-00466-2
Abstract: Background Genetic studies have implicated rare and common variations in liability for autism spectrum disorder (ASD). Of the discovered risk variants, those rare in the population invariably have large impact on liability, while common variants… read more here.
Keywords: common risk; risk; asd subjects; liability ... See more keywords
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1010129
Abstract: Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity,… read more here.
Keywords: rare common; disease; disease rare; abca4 disease ... See more keywords
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients
Sign Up to like & getrecommendations! Published in 2022 at "Biomolecules"
DOI: 10.3390/biom12081043
Abstract: Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50–70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on… read more here.
Keywords: rare common; arrhythmogenic cardiomyopathy; spectrum rare; common genetic ... See more keywords