Christy L. Avery

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.

Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.

This study integrates metabolomic and genetic data from the CARDIA study to identify novel variants associated with metabolite levels across diverse populations.

Genome-wide association study reveals shared and distinct genetic architecture underlying fatty acid and bioactive oxylipin metabolites in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL)

This study conducts a GWAS on fatty acids and oxylipins in HCHS/SOL participants, identifying 19 genetic loci and shared/distinct genetic architecture.

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium

The paper analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-specific effects via GAUDI

GAUDI improves polygenic risk prediction in admixed populations by modeling ancestry-specific and shared effects, outperforming existing methods in simulations and real data.

Selecting Clustering Algorithms for IBD Mapping

The paper evaluates clustering algorithms for IBD mapping, finding that Markov Clustering outperforms others in statistical power and efficiency.

Analyses of Biomarker Traits in Diverse UK Biobank Participants Identify Associations Missed by European-centric Analysis Strategies

The paper identifies novel genetic associations for biomarker traits in non-European UK Biobank populations, highlighting missed signals in European-centric analyses.

Rapid detection of identity-by-descent tracts for mega-scale datasets

The paper introduces iLASH, an algorithm for fast and accurate detection of identity-by-descent tracts in large genomic datasets, achieving significant speed improvements over existing methods.

De novo mutations across 1,465 diverse genomes reveal novel mutational insights and reductions in the Amish founder population.

The paper analyzes de novo mutations in 1,465 genomes to show similar mutation rates across ancestries but reduced rates in the Amish population, with environmental factors possibly influencing mutation rates.

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

GWAS of QRS Duration Identifies New Loci Specific to Hispanic/Latino Populations

This study conducts a GWAS on QRS duration in Hispanic/Latino populations, identifying two new loci and confirming most previously known SNPs.

Discovering patterns of pleiotropy in genome-wide association studies

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.