Alessandra Chesi
YOU?
Author Swipe
View article: GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density
GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density Open
Our results provide a roadmap for how single-cell CRISPRi screens may be applied to the challenging task of resolving effector gene identities at all BMD GWAS loci. Extending our CRISPRi screening approach to other tissues could play a key…
View article: Cross-species variant-to-function analyses implicate <i>MEIS1</i> in conferring sleep abnormalities and impaired cerebellar development
Cross-species variant-to-function analyses implicate <i>MEIS1</i> in conferring sleep abnormalities and impaired cerebellar development Open
Genome wide association study (GWAS) reports substantially outpace subsequent functional characterization. Pinpointing the causal effector gene(s) at GWAS loci remains challenging given the non-coding genomic residency of >98% of these sig…
View article: Polygenic prediction of body mass index and obesity through the life course and across ancestries
Polygenic prediction of body mass index and obesity through the life course and across ancestries Open
View article: Integrated genomic analysis and CRISPRi implicates<i>EGFR</i>in Alzheimer’s disease risk
Integrated genomic analysis and CRISPRi implicates<i>EGFR</i>in Alzheimer’s disease risk Open
Genome-wide association studies (GWAS) have identified numerous loci linked to late-onset Alzheimer’s disease (LOAD), but the pan-brain regional effects of these loci remain largely uncharacterized. To address this, we systematically analy…
View article: Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry Open
View article: The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood
The gSOS Polygenic Score is Associated with Bone Density and Fracture Risk in Childhood Open
The polygenic risk score genetic quantitative ultrasound speed of sound (gSOS) was developed using machine learning algorithms in adults of European ancestry and associates with reduced odds of fracture in adults. We aimed to determine if …
View article: Integration of Alzheimer’s GWAS, 3D genomics, and single-cell CRISPRi non-coding screen implicates causal variants in a microglial enhancer regulating <i>TSPAN14</i>
Integration of Alzheimer’s GWAS, 3D genomics, and single-cell CRISPRi non-coding screen implicates causal variants in a microglial enhancer regulating <i>TSPAN14</i> Open
While GWAS have been successful in providing variant-to-trait associations for human complex diseases, functional dissection of the discovered loci has lagged behind. Here, we describe a variant-to-gene (V2G) mapping effort for Alzheimer’s…
View article: Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
View article: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome…
View article: A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids Open
View article: Variant‐to‐function mapping of late‐onset Alzheimer’s disease GWAS loci in human microglial models implicates <i>RTFDC1</i> as an effector gene at the <i>CASS4</i> locus
Variant‐to‐function mapping of late‐onset Alzheimer’s disease GWAS loci in human microglial models implicates <i>RTFDC1</i> as an effector gene at the <i>CASS4</i> locus Open
Background To date, Alzheimer’s disease (AD) research has principally focused on neurons. In contrast, recent studies suggest that genetic mechanisms drive microglia towards prolonged inflammation in AD brains, exacerbating neurodegenerati…
View article: Variant‐gene pair in <i>silico</i> analyses and functional validation of LOAD GWAS loci in human brain‐relevant cell types identify <i>EGFR</i> as a target gene for potential drug repurposing
Variant‐gene pair in <i>silico</i> analyses and functional validation of LOAD GWAS loci in human brain‐relevant cell types identify <i>EGFR</i> as a target gene for potential drug repurposing Open
Background Recent studies suggest genome‐wide‐association‐studies (GWAS) loci confer their effects on microglia in late‐onset Alzheimer’s disease (LOAD) brains. Relatively fewer studies have investigated the effects of other genome‐wide si…
View article: Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
View article: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome…
View article: Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of<i>cis</i>-regulation
Mapping chromatin interactions at melanoma susceptibility loci and cell-type specific dataset integration uncovers distant gene targets of<i>cis</i>-regulation Open
Genome-wide association studies (GWAS) of melanoma risk have identified 68 independent signals at 54 loci. For most loci, specific functional variants and their respective target genes remain to be established. Capture-HiC is an assay that…
View article: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes Open
View article: Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes Open
View article: Cross-species evidence for a developmental origin of adult hypersomnia with loss of synaptic adhesion molecules<i>beat-Ia/CADM2</i>
Cross-species evidence for a developmental origin of adult hypersomnia with loss of synaptic adhesion molecules<i>beat-Ia/CADM2</i> Open
Idiopathic hypersomnia (IH) is a poorly-understood sleep disorder characterized by excessive daytime sleepiness despite normal nighttime sleep. Combining human genomics with behavioral and mechanistic studies in fish and flies, we uncover …
View article: Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C
Implicating type 2 diabetes effector genes in relevant metabolic cellular models using promoter-focused Capture-C Open
View article: Variant-to-function mapping of late-onset Alzheimer’s disease GWAS signals in human microglial cell models implicates<i>RTFDC1</i>at the<i>CASS4</i>locus
Variant-to-function mapping of late-onset Alzheimer’s disease GWAS signals in human microglial cell models implicates<i>RTFDC1</i>at the<i>CASS4</i>locus Open
Late-onset Alzheimer’s disease (LOAD) research has principally focused on neurons over the years due to their known role in the production of amyloid beta plaques and neurofibrillary tangles. In contrast, recent genomic studies of LOAD hav…
View article: 3D chromatin-based variant-to-gene maps across 57 human cell types reveal the cellular and genetic architecture of autoimmune disease susceptibility
3D chromatin-based variant-to-gene maps across 57 human cell types reveal the cellular and genetic architecture of autoimmune disease susceptibility Open
Genome-wide association studies (GWAS) have identified genetic links to autoimmune disorders, but lack detail on causal elements. We generated 3D genomic datasets of promoter-focused Capture-C, Hi-C, ATAC-seq, and RNA-seq across 57 human c…
View article: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome…
View article: Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
Author response: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome…
View article: 3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity
3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity Open
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome…
View article: Shared and unique 3D genomic features of substance use disorders across multiple cell types
Shared and unique 3D genomic features of substance use disorders across multiple cell types Open
Recent genome-wide association studies (GWAS) revealed shared genetic components among substance use disorders (SUDs). However, the extent of underlying shared causal variants, effector genes, and cellular contexts, remain unclear. We inte…
View article: A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations
A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations Open
Genetic studies of bone mineral density (BMD) largely have been conducted in European populations. We therefore conducted a meta-analysis of six independent African ancestry cohorts to determine whether previously reported BMD loci identif…
View article: Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes
Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes Open
View article: Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3′ UTR of FAIM2
Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3′ UTR of FAIM2 Open
View article: Perturbation of the insomnia <i>WDR90</i> genome-wide association studies locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, <i>PIG-Q</i>
Perturbation of the insomnia <i>WDR90</i> genome-wide association studies locus pinpoints rs3752495 as a causal variant influencing distal expression of neighboring gene, <i>PIG-Q</i> Open
Although genome-wide association studies (GWAS) have identified loci for sleep-related traits, they do not directly uncover the underlying causal variants and corresponding effector genes. The majority of such variants reside in non-coding…
View article: Osteoporosis GWAS-implicated <i>DNM3</i> locus contextually regulates osteoblastic and chondrogenic fate of mesenchymal stem/progenitor cells through oscillating miR-199a-5p levels
Osteoporosis GWAS-implicated <i>DNM3</i> locus contextually regulates osteoblastic and chondrogenic fate of mesenchymal stem/progenitor cells through oscillating miR-199a-5p levels Open
Genome wide association study (GWAS)-implicated bone mineral density (BMD) signals have been shown to localize in cis-regulatory regions of distal effector genes using 3D genomic methods. Detailed characterization of such genes can reveal …