Debashree Ray
YOU?
Author Swipe
View article: A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap
A robust pleiotropy method with applications to lipid traits and to inflammatory bowel disease subtypes with sample overlap Open
Pleiotropy, the phenomenon where a genetic region confers risk to multiple traits, is widely observed, even among seemingly unrelated traits. Knowledge of pleiotropy can improve understanding of biological mechanisms of diseases/traits, an…
View article: Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting
Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting Open
Background/Objectives: We investigated maternal and parent-of-origin (PoO) gene-environment interaction effects on the risk of nonsyndromic orofacial clefts for two maternal environmental factors: periconceptional smoking and folic acid su…
View article: Estimation of Direct and Indirect Polygenic Effects and Gene-Environment Interactions using Polygenic Scores in Case-Parent Trio Studies
Estimation of Direct and Indirect Polygenic Effects and Gene-Environment Interactions using Polygenic Scores in Case-Parent Trio Studies Open
Family-based studies provide a unique opportunity to characterize genetic risks of diseases in the presence of population structure, assortative mating, and indirect genetic effects. We propose a novel framework, PGS-TRI, for the analysis …
View article: Genome-wide large-scale multi-trait analysis characterizes global patterns of pleiotropy and unique trait-specific variants
Genome-wide large-scale multi-trait analysis characterizes global patterns of pleiotropy and unique trait-specific variants Open
View article: The Association Between Thyroid Differentiation Score and Survival Outcomes in Papillary Thyroid Carcinoma
The Association Between Thyroid Differentiation Score and Survival Outcomes in Papillary Thyroid Carcinoma Open
Context Thyroid differentiation score (TDS), calculated based on mRNA expression levels of 16 genes controlling thyroid metabolism and function, has been proposed as a measure to quantify differentiation in papillary thyroid carcinoma (PTC…
View article: SMIM1 absence is associated with reduced energy expenditure and excess weight
SMIM1 absence is associated with reduced energy expenditure and excess weight Open
This work was funded by the National Institute of Health Research, British Heart Foundation, and NHS Blood and Transplant.
View article: <b>Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study</b>
<b>Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study</b> Open
ABSTRACT (249 words)Genetic studies of non-traditional glycemic biomarkers, glycated albumin and fructosamine, can shed light on unknown aspects of type 2 diabetes genetics and biology. We performed a multi-phenotype GWAS of glycate…
View article: <b>Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study</b>
<b>Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study</b> Open
ABSTRACT (249 words)Genetic studies of non-traditional glycemic biomarkers, glycated albumin and fructosamine, can shed light on unknown aspects of type 2 diabetes genetics and biology. We performed a multi-phenotype GWAS of glycate…
View article: Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications Open
View article: Comparative impact assessment of COVID-19 policy interventions in five South Asian countries using reported and estimated unreported death counts during 2020-2021
Comparative impact assessment of COVID-19 policy interventions in five South Asian countries using reported and estimated unreported death counts during 2020-2021 Open
There has been raging discussion and debate around the quality of COVID death data in South Asia. According to WHO, of the 5.5 million reported COVID-19 deaths from 2020-2021, 0.57 million (10%) were contributed by five low and middle inco…
View article: Precision subclassification of type 2 diabetes: a systematic review
Precision subclassification of type 2 diabetes: a systematic review Open
View article: Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine Open
View article: Epigenome-wide association study of incident type 2 diabetes in Black and White participants from the Atherosclerosis Risk in Communities Study
Epigenome-wide association study of incident type 2 diabetes in Black and White participants from the Atherosclerosis Risk in Communities Study Open
DNA methylation studies of incident type 2 diabetes in US populations are limited, and to our knowledge none included individuals of African descent living in the US. We performed an epigenome-wide association analysis of blood-based methy…
View article: Association of Polygenic Score With Tumor Molecular Subtypes in Papillary Thyroid Carcinoma
Association of Polygenic Score With Tumor Molecular Subtypes in Papillary Thyroid Carcinoma Open
Context Genome-wide association studies have identified germline variants associated with elevated PTC risk. It is also known that somatic driver mutations contribute to PTC development and as such PTCs can be further categorized into diff…
View article: Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study
Characterizing common and rare variations in non-traditional glycemic biomarkers using multivariate approaches on multi-ancestry ARIC study Open
Glycated hemoglobin, fasting glucose, glycated albumin, and fructosamine are biomarkers that reflect different aspects of the glycemic process. Genetic studies of these glycemic biomarkers can shed light on unknown aspects of type 2 diabet…
View article: Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH Open
View article: Systematic review of precision subclassification of type 2 diabetes
Systematic review of precision subclassification of type 2 diabetes Open
Heterogeneity in type 2 diabetes presentation, progression and treatment has the potential for precision medicine interventions that can enhance care and outcomes for affected individuals. We undertook a systematic review to ascertain whet…
View article: A Meta-Analysis of the Genome-Wide Association Studies on Two Genetically Correlated Phenotypes Suggests Four New Risk Loci for Headaches
A Meta-Analysis of the Genome-Wide Association Studies on Two Genetically Correlated Phenotypes Suggests Four New Risk Loci for Headaches Open
View article: Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Damaging Mutations in <b> <i>AFDN</i> </b> Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate Open
Objectives Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that cou…
View article: Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke
Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke Open
The ABO locus, genetically predicted blood group A, and higher genetic propensity for venous thrombosis are more strongly associated with EOS than with LOS, supporting a stronger role of prothrombotic factors in EOS.
View article: Lessons from SARS-CoV-2 in India: A data-driven framework for pandemic resilience
Lessons from SARS-CoV-2 in India: A data-driven framework for pandemic resilience Open
India experienced a massive surge in SARS-CoV-2 infections and deaths during April to June 2021 despite having controlled the epidemic relatively well during 2020. Using counterfactual predictions from epidemiological disease transmission …
View article: Genome-Wide Large-Scale Multi-Trait Analysis Characterizes Global Patterns of Pleiotropy and Unique Trait-Specific Variants
Genome-Wide Large-Scale Multi-Trait Analysis Characterizes Global Patterns of Pleiotropy and Unique Trait-Specific Variants Open
Genome-wide association studies (GWAS) have found widespread evidence of pleiotropy, but characterization of global patterns of pleiotropy remain highly incomplete due to insufficient power of current approaches. We develop fastASSET, an e…
View article: Meta-analysis under imbalance in measurement of confounders in cohort studies using only summary-level data
Meta-analysis under imbalance in measurement of confounders in cohort studies using only summary-level data Open
Background Cohort collaborations often require meta-analysis of exposure-outcome association estimates across cohorts as an alternative to pooling individual-level data that requires a laborious process of data harmonization on individual-…
View article: Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies
Benchmarking statistical methods for analyzing parent–child dyads in genetic association studies Open
Genetic association studies of child health outcomes often employ family‐based study designs. One of the most popular family‐based designs is the case–parent trio design that considers the smallest possible nuclear family consisting of two…
View article: Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms
Genome‐wide association studies of 27 accelerometry‐derived physical activity measurements identified novel loci and genetic mechanisms Open
Physical inactivity (PA) is an important risk factor for a wide range of diseases. Previous genome‐wide association studies (GWAS), based on self‐reported data or a small number of phenotypes derived from accelerometry, have identified a l…
View article: Genetic Contributions to Early and Late Onset Ischemic Stroke
Genetic Contributions to Early and Late Onset Ischemic Stroke Open
Objective To determine the contribution of common genetic variants to risk of early onset ischemic stroke (IS). Methods We performed a meta-analysis of genome-wide association studies of early onset IS, ages 18-59, using individual level d…
View article: A meta-analysis of the genome-wide association studies on two genetically correlated phenotypes (self-reported headache and self-reported migraine) identifies four new risk loci for headaches (N=397,385)
A meta-analysis of the genome-wide association studies on two genetically correlated phenotypes (self-reported headache and self-reported migraine) identifies four new risk loci for headaches (N=397,385) Open
Headache is one of the commonest complaints that doctors need to address in clinical settings. The genetic mechanisms of different types of headache are not well understood. In this study, we performed a meta-analysis of genome-wide associ…
View article: Benchmarking statistical methods for analyzing parent-child dyads in genetic association studies
Benchmarking statistical methods for analyzing parent-child dyads in genetic association studies Open
Genetic association studies of child health outcomes often employ family-based designs. One of the most popular family-based designs is the case-parent trio design that considers the smallest possible nuclear family consisting of two paren…
View article: Author Correction: Incorporating false negative tests in epidemiological models for SARS-CoV-2 transmission and reconciling with seroprevalence estimates
Author Correction: Incorporating false negative tests in epidemiological models for SARS-CoV-2 transmission and reconciling with seroprevalence estimates Open
View article: Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios
Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios Open
Based on epidemiologic and embryologic patterns, nonsyndromic orofacial clefts– the most common craniofacial birth defects in humans– are commonly categorized into cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), …