Esteban G. Burchard

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

Present-day admixed genomes reveal prehistoric adaptation to cold, maritime diet, and local pathogens in Patagonia

The paper analyzes genome-wide data from Indigenous Patagonians to uncover genetic adaptations to cold, maritime diet, and pathogens, revealing prehistoric selection signals and admixture patterns.

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

Validation of human telomere length trans-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as novel human telomere length regulation genes

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

Phenotypic subtyping via contrastive learning

This paper introduces PACA, a contrastive learning method for subphenotype subtyping, which outperforms existing methods by capturing weak subphenotypic variation in complex diseases.

Clotting factor genes are associated with preeclampsia in high altitude pregnant women in the Peruvian Andes

This study identifies clotting factor genes PROZ, F7, and F10 on chromosome 13 as associated with preeclampsia in high-altitude Andean families.

LTA4H association with montelukast response in early and late-onset asthma

This study investigates the association between LTA4H genetic variant rs2660845 and montelukast response in early-onset asthma, finding increased exacerbation risk in European carriers.

Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture

The paper analyzes gene expression in African American and Latino children to show ancestry-specific genetic architecture and highlights the benefits of diverse genomic studies.

Genome Sequencing Unveils a New Regulatory Landscape of Platelet Reactivity

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

Robust, flexible, and scalable tests for Hardy-Weinberg Equilibrium across diverse ancestries

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

Novel genetic determinants of telomere length from a trans-ethnic analysis of 109,122 whole genome sequences in TOPMed

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium

The paper identifies eQTLs for ACE2 and TMPRSS2 in children's airway transcriptomes and links their expression to T2 inflammation and interferon responses, influencing SARS-CoV-2 infectivity.

Integrative genomic analysis in African American children with asthma finds 3 novel loci associated with lung function

This study identifies three novel genetic loci associated with pre- and post-bronchodilator lung function in African American children with asthma using integrative genomic analysis.

On the cross-population generalizability of gene expression prediction models

The paper tests gene expression prediction models' performance across populations and finds poor generalizability to African Americans compared to European Americans.

Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations

This study evaluates cost-effective GWAS strategies combining sequencing and array genotyping to improve power and genomic coverage in diverse populations.

Pairwise and Higher-Order Epistatic Interactions Have a Significant Impact on Bronchodilator Drug Response in African American Youth with Asthma

Population sequencing data reveal a compendium of mutational processes in human germline

The paper decomposes mutation rate and spectra variation in human germline using blind source separation, identifying nine processes including those related to DNA damage and replication timing.

Population history and gene divergence in Native Mexicans inferred from 76 human exomes

This study analyzes 76 exomes from five Mexican indigenous populations to infer population history and identify genes under positive selection.

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

The paper identifies germline genetic variants associated with clonal hematopoiesis of indeterminate potential (CHIP) using whole genome sequences from the TOPMed program.

Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity

The paper analyzes ROH in admixed populations and finds that deleterious homozygotes are more common in ROH overlapping African ancestry segments.

Identification of Novel Common Breast Cancer Risk Variants in Latinas at the 6q25 Locus

The paper identifies three novel common breast cancer risk variants at the 6q25 locus in Latinas and replicates their association in diverse populations.

Existence and implications of population variance structure

The paper introduces ADGLM to model population variance structure, showing it biases genetic association studies and identifies novel genotype-variance associations.

A Genome-wide Association and Admixture Mapping Study of Bronchodilator Drug Response in African Americans with Asthma

This study identifies genetic variants associated with bronchodilator drug response in African Americans with asthma, finding both population-specific and shared genetic factors across African American and Latino populations.

Genetic Determinants of Telomere Length in African American Youth

This study conducts the first genome-wide association study of telomere length in African American youth, finding a novel association and failing to replicate previous findings in adults and European children.

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

Ancestry and Genetic Associations with Bronchopulmonary Dysplasia in Preterm Infants

This study identifies genetic variants and pathways associated with reduced risk of bronchopulmonary dysplasia in preterm infants, highlighting racial/ethnic differences in response to nitric oxide treatment.

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.