Angel C. Y. Mak

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

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.

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.

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.

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.

A high-resolution, chromosome-assigned Komodo dragon genome reveals adaptations in the cardiovascular, muscular, and chemosensory systems of monitor lizards

The paper presents a high-resolution chromosome-assigned genome of the Komodo dragon, identifying adaptations in cardiovascular, muscular, and chemosensory systems through comparative genomics.

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.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially and Ethnically Diverse Children with Asthma

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

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

OMSV identifies large structural variations from optical maps with high accuracy, outperforming existing methods and detecting many missed by sequencing.