Sini Nagpal
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View article: Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus Open
Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed tr…
View article: Dual exposure-by-polygenic score interactions highlight disparities across social groups in the proportion needed to benefit
Dual exposure-by-polygenic score interactions highlight disparities across social groups in the proportion needed to benefit Open
The transferability of polygenic scores across population groups is a major concern with respect to the equitable clinical implementation of genomic medicine. Since genetic associations are identified relative to the population mean, inevi…
View article: Concordant B and T Cell Heterogeneity Inferred from the multi-omic Landscape of Peripheral Blood Mononuclear Cells in a Crohn’s Disease Cohort
Concordant B and T Cell Heterogeneity Inferred from the multi-omic Landscape of Peripheral Blood Mononuclear Cells in a Crohn’s Disease Cohort Open
Background and Aims Crohn’s disease is characterised by inflammation in the gastrointestinal tract due to a combination of genetic, immune, and environmental factors. Transcriptomic and epigenomic profiling of intestinal tissue of Crohn’s …
View article: The role of admixture in the rare variant contribution to inflammatory bowel disease
The role of admixture in the rare variant contribution to inflammatory bowel disease Open
Background Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can be used in both diag…
View article: Mendelian Randomization Indicates a Causal Role for Omega-3 Fatty Acids in Inflammatory Bowel Disease
Mendelian Randomization Indicates a Causal Role for Omega-3 Fatty Acids in Inflammatory Bowel Disease Open
Inflammatory bowel disease (IBD) is characterized by chronic inflammation of the gastrointestinal system. Omega-3 (ω3) fatty acids are polyunsaturated fatty acids (PUFAs) that are largely obtained from diet and have been speculated to decr…
View article: Canalization of the Polygenic Risk for Common Diseases and Traits in the UK Biobank Cohort
Canalization of the Polygenic Risk for Common Diseases and Traits in the UK Biobank Cohort Open
Since organisms develop and thrive in the face of constant perturbations due to environmental and genetic variation, species may evolve resilient genetic architectures. We sought evidence for this process, known as canalization, through a …
View article: Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression Open
View article: Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression
Stratification of Risk of Progression to Colectomy in Ulcerative Colitis using Measured and Predicted Gene Expression Open
SUMMARY An important goal of clinical genomics is to be able to estimate the risk of adverse disease outcomes. Between 5% and 10% of ulcerative colitis (UC) patients require colectomy within five years of diagnosis, but polygenic risk scor…
View article: Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease Open
View article: The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly Open
View article: TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits
TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits Open
View article: Tu1760 – Alterations in Expression Quantitative Trait Loci from Diagnosis to Recovery in Pediatric Ulcerative Colitis
Tu1760 – Alterations in Expression Quantitative Trait Loci from Diagnosis to Recovery in Pediatric Ulcerative Colitis Open
View article: TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits
TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits Open
The transcriptome-wide association studies (TWAS) that test for association between the study trait and the imputed gene expression levels from cis-acting expression quantitative trait loci (cis-eQTL) genotypes have successfully enhanced t…
View article: The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly
The Medical Genome Reference Bank: Whole genomes and phenotype of 2,570 healthy elderly Open
Summary Population health research is increasingly focused on the genetic determinants of healthy ageing, but there is no public resource of whole genome sequences and phenotype data from healthy elderly individuals. Here we describe the M…
View article: Pervasive Modulation of Obesity Risk by the Environment and Genomic Background
Pervasive Modulation of Obesity Risk by the Environment and Genomic Background Open
The prevalence of the so-called diseases of affluence, such as type 2 diabetes or hypertension, has increased dramatically in the last two generations. Although genome-wide association studies (GWAS) have discovered hundreds of genes invol…