Celeste S. Eng

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.

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.

This study uses longitudinal meta-regression to examine how DNA methylation effects on child health outcomes vary by timing, finding larger effects in childhood but noisier associations and time-specific signals.

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

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.

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.

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.

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

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.

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.

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

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

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

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

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

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.

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.

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.

This study identifies pharmacogenetic variants associated with albuterol bronchodilator response in minority children with asthma using whole genome sequencing.

This paper introduces ROP to identify the source of unmapped RNA-Seq reads across diverse tissues, showing it can account for 99.9% of 1 trillion reads and reveals immune and microbial correlations.

The paper designs a genotyping array (ADPC) for African-specific genetic variation using whole genome sequences from the CAAPA consortium, improving GWAS for African ancestry populations.

This study identifies novel asthma susceptibility loci in individuals of African ancestry through genome-wide association analysis and admixture mapping.

This paper shows that DNA methylation data can capture ancestry information and introduces a method to infer ancestry from methylation data without genetic data.