common variants
Common variants at 30 loci contribute.pdf
... harbor common SNPs Among the other loci to reach genome-wide significance, ABCG8 and LCAT have been shown to cause mendelian forms of dyslipidemia 28,29 ...respectively. Common SNPs at ABCG8 and LCAT have ...
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Disease risk prediction with rare and common variants
... by common variants and environmental covari- ates ...and common genetic var- iants in the Genetic Analysis Workshop 17 (GAW17) simulation data ...
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Identifying rare and common variants with Bayesian variable selection
... genetic variants in the data from ...of common variants for their ...true-positive variants. The de- tection of disease-associated variants was not sensitive to the MAF thresholds ...
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Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
... Age-related macular degeneration (AMD) is a complex and multifaceted disease involving contributions from both genetic and environmental influences. Previous work exploring the genetic contributions of AMD has implicated ...
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Common variants at 12q14 and 12q24 are associated with hippocampal volume
... AGES_Reykjavik study) was modest for rare variants (68% for 0.05 MAF) and strong for more common variants (>99% for 0.10 MAF). Additional power estimates are shown in Supplementary Figure 3. The ...
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Using common variants to indicate cancer genes.
... Attempts to investigate noncoding SMs thus far have been on the level of specific mutations within single samples, without reproducibility, or have been anecdotal. In those cases, though, it has been stressed that it is ...
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Population structure analysis using rare and common functional variants
... rare variants required 532 significant PCs to account for 90% of the variation or population ...rare variants showed that most of these individuals had intermediate values between conti- nental clusters of ...
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Prioritization and functional assessment of noncoding variants associated with complex diseases
... coding variants from adjacent variants utilizing two cancer-related coding variant ...driver variants that were identified from 560 breast cancer samples in a recent study ...driver variants ...
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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric onset patients
... the common dysfunctional var- iants rs72552713 ...a common variant in the Japanese population, is a rare variant in European and African-American popula- tions, whereas ...a common variant in all ...
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Prevalence of common hemoglobin variants in an afro descendent Ecuadorian population
... beta and alpha-thalassemia have been some of the most common hemoglobin variants found in Latin American Countries. Hemoglobin S, (or sickle cell trait) has been one of the most studied hemoglobin ...
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Rethinking the genetic architecture of schizophrenia
... that common variants contributing a modest increase in risk could be detected by GWAS (Risch & Merikangas, 1996 ; Reich & Lander, ...of common risk variants of even modest effect size ...
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Multiple common and rare variants of ABCG2 cause gout
... some variants of ABCG2 showed inconsistent scores (table 2; P269S and ...ABCG2 variants using the following protocol: (1) when functional data were available, we used the results of urate transport analysis ...
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The impact of rare and low frequency genetic variants in common disease
... rare variants, enabled by decreases in sequencing costs and increases in sequencing throughput ...to variants in protein-coding regions of the ...and common variants to ...low-frequency ...
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PubMedCentral-PMC5386302.pdf
... rare variants within RBFOX1 are protective for BP traits among obese ...two common variants in RBFOX1 associ- ated with BMI ...two variants could be replicated in non-overlapped Pima Indians ...
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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
... RYR1 gene has originally been reported to be respon- sible for congenital myopathy and malignant hyperther- mia. Two missense mutations of the RYR1 gene were demonstrated in two independent cases with PP in our cohort. ...
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Common Genetic Variants and Risk of Brain Injury After Preterm Birth
... to create a mean FA map and a mean FA skeleton that represents the center of all white matter tracts common to the group. The FA skeleton was thresh- olded at FA $ 0.15 before each infant ’ s aligned FA data were ...
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Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar
... G6PD deficiency is one of the most common X- linked recessive hereditary disorders in the world. It is characterized by abnormally low levels of G6PD [5, 6]. G6PD deficient RBCs are more vulnerable to damages ...
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Copy number variants are a common cause of non-syndromic hearing loss
... Liquid-handling automation equipment was used to pre- pare the majority of libraries. We used OtoSCOPE v4 or v5, targeting 66 or 89 deafness-associated genes, respect- ively. We used v4 for 76 and v5 for 28 of the ...
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Reproductive aging associated common genetic variants and the risk of breast cancer
... variants and disease risk or, furthermore, whether these associations are mediated through the intermediate phe- notypes. Chen and colleagues [32] investigated obesity- linked genetic variants in relation ...
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Genetics of kidney failure and the evolving story of APOL1
... Identifying genetic factors in common forms of kidney disease The high prevalence of kidney disease poses the question of whether common phenotypes result from rare genetic variants with[r] ...
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