Alexandre C. Pereira

Beyond the classical plasma secretome: genetic architecture and disease associations of the expanded human plasma proteome in 13,445 Europeans

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

A genomic-led strategy to anticipate drug safety effects

The paper uses Mendelian Randomization to predict adverse drug reactions by linking genetic variants to gene expression and protein abundance across large datasets.

Type 2 diabetes genetics in 125,000 admixed adults from Mexico City

This study identifies 86 T2D GWAS associations in 125,000 admixed Mexican adults, including 21 novel signals, and highlights the role of common regulatory variation in the endocrine pancreas.

X-Chromosome-Wide Association Study Identifies Novel Genetic Signals for Heart Failure and Subtypes

This study conducts an X-chromosome-wide association study to identify genetic signals for heart failure and its subtypes, finding novel loci and replicating some in UK Biobank.

Local ancestry modulates gene expression: shifting our understanding of genetic regulation and disease association within and across populations

The paper identifies ancestry-specific eQTL effects in Hispanic/Latino and African American populations, showing how local ancestry influences gene expression and disease risk.

Leveraging Large-Scale Biobanks for Therapeutic Target Discovery

This study uses large biobanks to identify gene-trait pairs with causal evidence, rediscover approved drug targets, and develop a predictive model for drug development.

Integrative Proteome- and Phenome-Wide Assessment Uncovers Causal Protein Drivers and Drug Targets for Heterogeneous Kidney Diseases

The paper identifies causal protein drivers and drug targets for heterogeneous kidney diseases using proteome-wide Mendelian randomization and EHR data.

Genome-wide association analysis and Mendelian randomization proteomics identify novel protein biomarkers and drug targets for primary prevention of heart failure

This study identifies novel genetic risk variants and potential drug targets for heart failure using GWAS and Mendelian randomization proteomics.

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

Genetic risk factors and Covid-19 severity in Brazil: results from BRACOVID Study

The paper reports genome-wide association study results for Covid-19 hospitalization in Brazil, identifying new genetic loci and validating previous findings.

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

This study examines how a major genetic risk factor for COVID-19 affects mortality and severity, finding stronger effects in younger adults.

Genome-wide association of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) plasma levels in the ELSA-Brasil study

The paper conducts a genome-wide association study of plasma PCSK9 levels in the ELSA-Brasil cohort, identifying two genome-wide significant loci and seven loci with p < 1e-6.

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes

The paper identifies a West African-associated regulatory variant with a strong female-specific effect on BMI and fat mass in Brazilian admixed populations.

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

This paper introduces CardioBoost, a disease-specific variant classifier for inherited cardiac conditions, showing improved accuracy in predicting pathogenicity compared to genome-wide tools.

Origins, admixture dynamics and homogenization of the African gene pool in the Americas

The paper analyzes African genetic contributions to the Americas, showing regional ancestry patterns and admixture dynamics linked to historical factors.

The genomic impact of European colonization of the Americas

This study analyzes the genetic impact of European colonization on the Americas using genome-wide data from 12,000 individuals, revealing complex contributions from European, African, and other sources.

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

The paper quantifies variant pathogenicity in hypertrophic cardiomyopathy using etiological fraction, increasing actionable variant detection by 14-20%.