Timothy D. O’Connor

The paper assesses genetic relatedness of Plasmodium falciparum isolates in Cambodia, finding high IBD sharing linked to geography and occupation.

This paper introduces a coalescent-based framework to unify population structure and relatedness analysis, showing that full GRMs can replace PCs for modeling genetic covariance.

This study benchmarks IBD detection tools for Plasmodium falciparum, showing that optimized parameters improve accuracy, especially for Ne estimation, and recommends hmmIBD for quality-sensitive analyses.

The Peruvian Genome Project collects and analyzes genomic data from native and mestizo populations in Peru to address underrepresentation in global genome databases and uncover genetic adaptations to local environments.

The paper analyzes genome-wide data from 432 Peruvian urban individuals to reveal fine-scale population structure, admixture dynamics, and demographic patterns shaped by ancient and recent events.

The paper analyzes genetic diversity in the All of Us Research Program, showing that self-identified race and ethnicity groups exhibit continuous genetic variation rather than discrete clusters, with implications for genetic association studies.

The paper introduces ClOneHORT, a method to generate synthetic genomes with high fidelity using deep generative models, achieving accurate results in downstream analyses.

This study examines migration patterns among malaria vector species using genomic data, finding variation in genetic differentiation and migration rates across regions and species.

This study evaluates how imputation reference panel composition affects imputation quality in four Latin American cohorts, finding that increasing Latin American representation improves quality but results vary by population and chromosome.

This study examines the relationship between genetic ancestry, somatic mutation frequency, and histologic subtypes in high-grade endometrial cancer, finding associations between local ancestry and tumor mutation burden and histologic subtypes.

The paper conducts an X-chromosome association study in Latin American cohorts, identifying new loci linked to Parkinson Disease and replicating previous findings.

The paper analyzes exome array data from 9,721 ischemic stroke cases to identify coding variants associated with stroke, finding 15 significant variants, including 13 novel associations.

The paper constructs and validates a polygenic risk score for Parkinson's disease in a Latino cohort, finding ancestry-related biases and haplotype associations at the SNCA locus.

The paper shows Amerind ancestry is linked to lower LC-PUFA levels and increased cardiometabolic risk in Hispanic populations due to FADS genetic variation.

This study conducts the first GWAS of Parkinson's disease in Latinos, identifies SNCA as significant, and finds genetic overlap with Europeans.

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.

The paper introduces a method to detect short IBD segments using rare variant sharing, improving the identification of distant relatedness and older population divergence.

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.

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.

A common missense variant in FBN1 reduces height by 2.2 cm in Peruvians, showing strong positive selection and higher frequency in coastal Native American populations.

This study sequenced and analyzed genomes from Native American and mestizo populations in Peru to reconstruct their demographic history and genetic admixture patterns.

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.