Mark J. Daly
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View article: Population-scale multiome immune cell atlas reveals complex disease drivers
Population-scale multiome immune cell atlas reveals complex disease drivers Open
Most genetic variants associated with complex diseases lie in non-coding regions, yet mechanistic insights have been limited by the lack of an empirical framework for characterizing the molecular consequences of regulatory variation. Singl…
View article: Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
Rare genetic variants confer a high risk of ADHD and implicate neuronal biology Open
Attention deficit hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder with a large genetic component 1 . It affects around 5% of children and 2.5% of adults 2 , and is associated with several severe outcomes 3–11…
View article: Improved allele frequencies in gnomAD through local ancestry inference
Improved allele frequencies in gnomAD through local ancestry inference Open
View article: 23. RARE CODING VARIANTS IN SCHIZOPHRENIA HAVE ADDITIVE EFFECTS ON POLYGENIC RISK AND ASSOCIATE WITH COGNITIVE ABILITIES IN INDIVIDUALS WITH PSYCHOTIC DISORDERS
23. RARE CODING VARIANTS IN SCHIZOPHRENIA HAVE ADDITIVE EFFECTS ON POLYGENIC RISK AND ASSOCIATE WITH COGNITIVE ABILITIES IN INDIVIDUALS WITH PSYCHOTIC DISORDERS Open
View article: Proteomic prediction of disease largely reflects environmental risk exposure
Proteomic prediction of disease largely reflects environmental risk exposure Open
Plasma proteomic signatures accurately predict disease risk, but our understanding of the mechanisms contributing to the predictive value of the proteome remains limited. Here, we characterized proteomic biomarkers of 19 age-related diseas…
View article: Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease
Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease Open
Polygenic association studies implicate numerous genes in neuropsychiatric disorders, but linkage disequilibrium (LD) and cellular heterogeneity hinder mechanistic interpretation. Here, we integrate single-nucleus RNA-seq from human neuron…
View article: Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty Open
View article: Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases Open
1 Abstract The genetic features of founder populations with recent bottlenecks, causing some deleterious variants to rise to higher frequencies, can enhance the power of rare variant association studies. French Canadians from Quebec repres…
View article: Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13
Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13 Open
Preeclampsia is a common pregnancy-specific vascular disorder that develops during the second half of pregnancy. Preeclampsia shares features with thrombotic microangiopathies. Here we analyzed whether sequence variants in the coagulation …
View article: Genome-wide Association Study Identifies <i>SORCS3</i> as a Novel Susceptibility Locus for Panic Disorder in the FinnGen Study
Genome-wide Association Study Identifies <i>SORCS3</i> as a Novel Susceptibility Locus for Panic Disorder in the FinnGen Study Open
Panic disorder is an anxiety disorder with poorly understood etiology. Although twin studies suggest modest heritability (∼40%), few genetic variants have been associated with it. We carried out a genome-wide association study in the Finni…
View article: PGS Browser: a public platform for personalized polygenic score interpretation
PGS Browser: a public platform for personalized polygenic score interpretation Open
Identifying individuals at elevated risk before disease onset is a cornerstone of personalized prevention, and polygenic scores (PGSs) have proven to be nstrumental in this regard. In this study, we systematically benchmarked 3,168 PGS mod…
View article: Loss of CFHR5 function reduces the risk for age-related macular degeneration
Loss of CFHR5 function reduces the risk for age-related macular degeneration Open
View article: Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish
Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish Open
Venous thromboembolisms (VTEs) are a leading cause of morbidity and mortality. Although many genetic risk factors have been identified, a substantial portion of the heritability remains unexplained. In this study, we employed a genome-wide…
View article: Early establishment and life course stability of sex biases in the human brain transcriptome
Early establishment and life course stability of sex biases in the human brain transcriptome Open
To elaborate on the origins of the established male-female differences in several brain-related phenotypes, we assessed the patterns of transcriptomic sex biases in the developing and adult human forebrain. We find an abundance of sex diff…
View article: Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma
Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma Open
View article: Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity Open
View article: Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders Open
CACNA1A encodes the P/Q-type Ca V 2.1 calcium channels whose function underlies neuronal excitability, presynaptic neurotransmitter release, and Ca 2+ signaling in neurons. Pathogenic variants in CACNA1A have been found in individuals with…
View article: Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints
Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints Open
View article: Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank
Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank Open
Sex chromosome trisomies (SCT) are the most common whole chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed cases, res…
View article: Novel loci and biomedical consequences of iron homoeostasis variation
Novel loci and biomedical consequences of iron homoeostasis variation Open
View article: Cystic fibrosis risk variants confer protection against inflammatory bowel disease
Cystic fibrosis risk variants confer protection against inflammatory bowel disease Open
Genetic mutations that yield defective cystic fibrosis transmembrane regulator ( CFTR ) protein cause cystic fibrosis, a life-limiting autosomal recessive Mendelian disorder. A protective role of CFTR loss-of-function mutations in inflamma…
View article: Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience Open
View article: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience Open
View article: Loss of<i>CFHR5</i>function reduces the risk for age-related macular degeneration
Loss of<i>CFHR5</i>function reduces the risk for age-related macular degeneration Open
Age-related macular degeneration (AMD) is a prevalent cause of vision loss in the elderly with limited therapeutic options. A single chromosomal region around the complement factor H gene ( CFH ) is reported to explain nearly 25% of geneti…
View article: Improved Allele Frequencies in gnomAD through Local Ancestry Inference
Improved Allele Frequencies in gnomAD through Local Ancestry Inference Open
The Genome Aggregation Database (gnomAD) is a foundational resource for allele frequency data, widely used in genomic research and clinical interpretation. However, traditional estimates rely on individual-level genetic ancestry groupings …
View article: Early establishment and life course stability of sex biases in the human brain transcriptome
Early establishment and life course stability of sex biases in the human brain transcriptome Open
To elaborate on the origins of the established male-female differences in several brain-related phenotypes, we assessed the patterns of transcriptomic sex biases in the developing and adult human forebrain. We find an abundance of sex diff…
View article: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Open
View article: Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components
Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components Open
Variant scoring methods (VSMs) aid in the interpretation of coding mutations and their potential impact on health, but their evaluation in the context of human genetics applications remains inconsistent. Here, we describe GeneticsGym, a sy…
View article: Genetic Susceptibility to Acute Viral Bronchiolitis
Genetic Susceptibility to Acute Viral Bronchiolitis Open
Background Acute viral bronchiolitis is a major cause of infant hospitalizations worldwide. Childhood bronchiolitis is considered a risk factor for asthma, suggesting shared genetic factors and biological pathways. Genetic risk loci may pr…
View article: Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases
Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases Open