Lynne J. Hocking
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View article: Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis
Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis Open
Aims This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland. Methods Six genetic and genomic testing strategies were evaluated using a …
View article: Comparison of two ferritin assay platforms to assess their level of agreement in measuring serum and plasma ferritin levels in patients with chronic kidney disease
Comparison of two ferritin assay platforms to assess their level of agreement in measuring serum and plasma ferritin levels in patients with chronic kidney disease Open
Background Ferritin levels are used to make decisions on therapy of iron deficiency in patients with chronic kidney disease (CKD). Hyperferritinaemia, common among patients with CKD from the Northern Territory (NT) of Australia, makes use …
View article: Comparison of two ferritin assay platforms to assess their level of agreement in measuring serum and plasma ferritin levels in patients with chronic kidney disease
Comparison of two ferritin assay platforms to assess their level of agreement in measuring serum and plasma ferritin levels in patients with chronic kidney disease Open
Background: Ferritin levels are used to make decisions on therapy of iron deficiency in patients with chronic kidney disease (CKD). Hyperferritinaemia, common among patients with CKD from the Northern Territory (NT) of Australia, makes use…
View article: Rare coding variants and X-linked loci associated with age at menarche
Rare coding variants and X-linked loci associated with age at menarche Open
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancest…
View article: Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels Open
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies (GWAS). These associations are largely driven by common variants, their function is often not known, and many are likely …
View article: Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium Open
BackgroundMajor depressive disorder (MDD) is a disabling mood disorder, and despite a known heritable component, a large meta-analysis of genome-wide association studies revealed no replicable genetic risk variants. Given prior evidence of…
View article: Genome-wide association summary statistics of antidepressant treatment resistance meta-analysis
Genome-wide association summary statistics of antidepressant treatment resistance meta-analysis Open
Data from Wigmore et al "Genome-wide association study of antidepressant treatment resistance in a population-based cohort using health service prescription data and meta-analysis with GENDEP". The Pharmacogenomics Journal 20, 329–341 (202…
View article: Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism
Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism Open
Background: Stressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs and neuroticism are heritable and genetic risk for SLEs is associated with risk for MDD. We sought to investigate …
View article: Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism
Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism Open
Background: Stressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs and neuroticism are heritable and genetic risk for SLEs is correlated with risk for MDD. We sought to investigate…
View article: Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism
Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism Open
Background Stressful life events (SLEs) and neuroticism are risk factors for major depressive disorder (MDD). However, SLEs and neuroticism are heritable traits that are correlated with genetic risk for MDD. In the current study, we sought…
View article: Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study
Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study Open
We found an increased co-occurrence of chronic pain, depression and cardiovascular disease in two independent cohorts (general population-based cohort, twins cohort) suggesting a shared genetic contribution. Adjustment for known environmen…
View article: Additional file 11: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 11: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Total_cholesterol_significant_SNPS. (XLSX 92 kb)
View article: Additional file 4: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 4: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Diastolic_Blood_Pressure_significant_SNPS. (XLSX 8 kb)
View article: Additional file 7: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 7: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Fasting_Glucose (including_diabetics)_significant_SNPS. (XLSX 33 kb)
View article: Additional file 10: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 10: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Height_significant_SNPS. (XLSX 64 kb)
View article: Additional file 12: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 12: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Urea_significant_SNPS. (XLSX 12 kb)
View article: Additional file 14: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 14: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Body_Fat_significant_SNPS. (XLSX 19 kb)
View article: Additional file 9: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 9: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_HDL_cholesterol_significant_SNPS. (XLSX 71 kb)
View article: Additional file 6: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 6: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Serum_Creatinine_significant_SNPS. (XLSX 10 kb)
View article: Additional file 3: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 3: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Body_Mass_Index_significant_SNPS. (XLSX 36 kb)
View article: Additional file 8: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 8: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Fasting_Glucose (excluding_diabetics)_significant_SNPS. (XLSX 36 kb)
View article: Additional file 13: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 13: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Waist_Hip_Ratio_significant_SNPS. (XLSX 8 kb)
View article: Additional file 5: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants
Additional file 5: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants Open
GS_HRC_imputed_Heart_Rate_significant_SNPS. (XLSX 9 kb)
View article: Quantifying the extent to which index event biases influence large genetic association studies
Quantifying the extent to which index event biases influence large genetic association studies Open
As genetic association studies increase in size to 100 000s of individuals, subtle biases may influence conclusions. One possible bias is 'index event bias' (IEB) that appears due to the stratification by, or enrichment for, disease status…
View article: <i>KLB</i> is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference
<i>KLB</i> is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference Open
Significance Alcohol is a widely consumed drug in western societies that can lead to addiction. A small shift in consumption can have dramatic consequences on public health. We performed the largest genome-wide association metaanalysis and…