David Curtis
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View article: Weighted burden analysis of rare genetic variants identifies novel genes with effects on BMI
Weighted burden analysis of rare genetic variants identifies novel genes with effects on BMI Open
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and BMI had implicated two genes, MC4R and PCSK1, at exome-wide significance. In addition, a further 66 genes we…
View article: Health effects of loss of function variants in gene targets for Alzheimer’s disease prevention
Health effects of loss of function variants in gene targets for Alzheimer’s disease prevention Open
View article: Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants
Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants Open
A recently described method to predict pathogenicity of DNA variants uses a DNA language model and can be applied to both coding and non-coding variants. For coding variants the performance of this method, termed GPN-MSA (genomic pretraine…
View article: Concordance between preoperative imaging and surgical specimen size in the evaluation of intraductal papillary mucinous neoplasms of the pancreas
Concordance between preoperative imaging and surgical specimen size in the evaluation of intraductal papillary mucinous neoplasms of the pancreas Open
View article: Analysis of whole genome sequence data shows association of Alzheimer’s disease with rare coding variants in <i>ABCA7, PSEN1, SORL1</i> and <i>TREM2</i>
Analysis of whole genome sequence data shows association of Alzheimer’s disease with rare coding variants in <i>ABCA7, PSEN1, SORL1</i> and <i>TREM2</i> Open
Previous studies have reported associations between risk of Alzheimer’s disease (AD) or dementia and rare coding variants in a number of genes. A two stage strategy was used in which a previously released whole exome sequenced sample was u…
View article: Analysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition
Analysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition Open
Previous studies of genetic contributions to risk of childhood asthma have implicated common variants with small effect sizes. Some studies using exome sequence data have reported associations with rare coding variants having larger effect…
View article: Analysis of 470,000 exome-sequenced cases and controls fails to identify any genes impacting risk of developing affective disorder
Analysis of 470,000 exome-sequenced cases and controls fails to identify any genes impacting risk of developing affective disorder Open
Objective: A previous analysis of 200,000 exome-sequenced UK Biobank participants using weighted burden analysis of rare, damaging variants failed to identify any genes associated with risk of affective disorder requiring specialist treatm…
View article: The Effectiveness of Post-operative Analgesia in Caesarean Section Patients at King Dinuzulu Hospital Complex: A Prospective Qualitative Descriptive analytical study at a District level Hospital in South Africa.
The Effectiveness of Post-operative Analgesia in Caesarean Section Patients at King Dinuzulu Hospital Complex: A Prospective Qualitative Descriptive analytical study at a District level Hospital in South Africa. Open
View article: Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes
Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes Open
Aims To follow up results from an earlier study using an extended sample of 470,000 exome-sequenced subjects to identify genes associated with type 2 diabetes (T2D) and to characterise the distribution of rare variants in these genes. Mate…
View article: Analysis of 470,000 exome-sequenced UK Biobank participants identifies genes containing rare variants which confer dementia risk
Analysis of 470,000 exome-sequenced UK Biobank participants identifies genes containing rare variants which confer dementia risk Open
Background Previous studies have reported that rare coding variants in a handful of genes have major effects on risk of Alzheimer’s disease (AD). A recent exome wide association study (ExWAS) of dementia in a subset of the UK Biobank cohor…
View article: Dural Venous Sinus Thrombosis: A Rare Cause of Intracranial Hemorrhage
Dural Venous Sinus Thrombosis: A Rare Cause of Intracranial Hemorrhage Open
Dural venous sinus thrombosis, a subset of cerebral venous thrombosis, is an important pathology due to its significant morbidity and mortality. This process has an annual incidence of three to five cases per million adults. Although copio…
View article: The Royal College of Psychiatrists should become British, not Royal
The Royal College of Psychiatrists should become British, not Royal Open
Summary The royal charter of the Royal College of Psychiatrists is generally taken to enhance its status. However, the concept of a hereditary monarchy is intellectually indefensible and the realities of the British monarchy exacerbate ine…
View article: Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease
Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease Open
View article: Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders Open
View article: Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk Open
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR , PCSK9 , APOC3 and IFITM5 , at exome-wide significance. In …
View article: Welch’s t test is more sensitive to real world violations of distributional assumptions than student’s t test but logistic regression is more robust than either
Welch’s t test is more sensitive to real world violations of distributional assumptions than student’s t test but logistic regression is more robust than either Open
It has previously been pointed out that Student’s t test, which assumes that samples are drawn from populations with equal standard deviations, can have an inflated Type I error rate if this assumption is violated. Hence it has been recomm…
View article: What have genetic studies of rare sequence variants taught us about the aetiology of schizophrenia?
What have genetic studies of rare sequence variants taught us about the aetiology of schizophrenia? Open
With a population prevalence of 1%, schizophrenia is widespread, yet the aetiology of this psychiatric disorder remains elusive. There is an evident genetic component of schizophrenia, with heritability estimates lying at 60%-80%. While ge…
View article: Editorial: Glutamatergic system in affective and psychotic disorders: pre-clinical and clinical advances
Editorial: Glutamatergic system in affective and psychotic disorders: pre-clinical and clinical advances Open
EDITORIAL article Front. Neurosci., 09 January 2024Sec. Neuropharmacology Volume 17 - 2023 | https://doi.org/10.3389/fnins.2023.1358271
View article: Genetic Variants Associated with Hypertension Risk: Progress and Implications
Genetic Variants Associated with Hypertension Risk: Progress and Implications Open
Background: Genetic variants causing diseases with hypertension as a secondary feature have previously been identified. Studies focussing on primary hypertension have utilised common and latterly rare genetic variants in atte…
View article: Investigation of Recessive Effects of Coding Variants on Common Clinical Phenotypes in Exome-Sequenced UK Biobank Participants
Investigation of Recessive Effects of Coding Variants on Common Clinical Phenotypes in Exome-Sequenced UK Biobank Participants Open
Introduction: Previous studies have demonstrated effects of rare coding variants on common, clinically relevant phenotypes although the additive burden of these variants makes only a small contribution to overall trait varian…
View article: Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease
Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease Open
An important issue pertinent to the analysis of sequence data to detect association between rare variants in a gene and a given phenotype is the ability to annotate nonsynonymous variants in terms of their likely importance as affecting pr…
View article: Reduction is sufficient for the disassembly of ricin and Shiga toxin 1 but not <i>Escherichia coli</i> heat-labile enterotoxin
Reduction is sufficient for the disassembly of ricin and Shiga toxin 1 but not <i>Escherichia coli</i> heat-labile enterotoxin Open
Many AB toxins contain an enzymatic A moiety that is anchored to a cell-binding B moiety by a disulfide bridge. After receptor-mediated endocytosis, some AB toxins undergo retrograde transport to the endoplasmic reticulum (ER) where reduct…
View article: Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes
Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes Open
Aims To follow up results from an earlier study using an extended sample of 470,000 exome-sequenced subjects to identify genes associated with type 2 diabetes (T2D) and to characterise the distribution of rare variants in these genes. Mate…
View article: Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank subject characterises effects on hyperlipidaemia risk
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank subject characterises effects on hyperlipidaemia risk Open
A previous study of 200,000 exome-sequenced UK Biobank participants investigating the association between rare coding variants and hyperlipidaemia had implicated four genes, LDLR , PCSK9 , APOC3 and IFITM5 , at exome-wide significance. In …
View article: Analysis of rare variants in 470,000 exome-sequenced UK Biobank participants implicates novel genes affecting risk of hypertension
Analysis of rare variants in 470,000 exome-sequenced UK Biobank participants implicates novel genes affecting risk of hypertension Open
Background A previous study of 200,000 exome-sequenced UK Biobank participants to test for association of rare coding variants with hypertension implicated two genes at exome-wide significance, DNMT3A and FES . A total of 42 genes had an u…
View article: The human genome harbours widespread exclusive yin yang haplotypes
The human genome harbours widespread exclusive yin yang haplotypes Open
There have been reports of examples of exclusive yin yang haplotypes, differing at every locus, but there has been no systematic search for them. Unphased whole genome sequence data for 2504 unrelated 1000 Genomes subjects was searched for…
View article: The PREPARE study: benefits of pharmacogenetic testing are unclear
The PREPARE study: benefits of pharmacogenetic testing are unclear Open
View article: Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia
Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia Open
View article: Opinion: Increased calorie gain from lactose digestion could contribute to selection for lactase persistence
Opinion: Increased calorie gain from lactose digestion could contribute to selection for lactase persistence Open
View article: Supplementary Material for: Analysis of rare variants in 470,000 exome-sequenced UK Biobank participants implicates novel genes affecting risk of hypertension
Supplementary Material for: Analysis of rare variants in 470,000 exome-sequenced UK Biobank participants implicates novel genes affecting risk of hypertension Open
Introduction A previous study of 200,000 exome-sequenced UK Biobank participants to test for association of rare coding variants with hypertension implicated two genes at exome-wide significance, DNMT3A and FES. A total of 42 genes had an …