Charleston W. K. Chiang

Single-cell multiomic mapping of genetic predisposition to childhood B-cell acute lymphoblastic leukemia

The paper uses single-cell multiomic analysis to identify genetic variants and regulatory disruptions linked to childhood B-cell acute lymphoblastic leukemia.

Meta-analysis of over 8,000 individuals from Hawai'i and Samoa for genetic associations to cardiometabolic phenotypes

This study conducts a GWAS of Native Hawaiians and Polynesian-ancestry populations to identify population-enriched genetic associations for cardiometabolic traits, confirming some variants and highlighting the need for larger cohorts.

The impact of Indigenous American-like ancestry on risk of acute lymphoblastic leukemia in Hispanic/Latino children

This study investigates the impact of Indigenous American-like ancestry on acute lymphoblastic leukemia risk in Hispanic/Latino children, finding no global association but significant local haplotype effects.

Gene-diet interaction analysis in UK Biobank identified genetic loci that modify the association between fish oil supplementation and the incidence of dementia

The paper identifies 43 genetic loci that modify the effect of fish oil supplementation on dementia risk using UK Biobank data.

A genealogy-based approach for revealing ancestry-specific structures in admixed populations

This paper introduces as-eGRM, a method to reveal ancestry-specific structures in admixed populations by incorporating genealogical trees and local ancestry calls, outperforming existing methods in simulated and empirical datasets.

A likelihood-based framework for demographic inference from genealogical trees

This paper introduces a likelihood-based framework called gLike to infer demographic history from genealogical trees, showing improved accuracy in estimating population parameters compared to existing methods.

Patterns of population structure and genetic variation within the Saudi Arabian population

This study analyzes genetic variation in Saudi Arabians, identifying sub-clusters and patterns influenced by demographic and cultural factors, and finds enrichment of deleterious alleles in more inbred sub-populations.

Imputation Efficacy Across Global Human Populations

The paper evaluates genotype imputation accuracy across global populations and finds disparities in performance for non-European ancestries, highlighting the need for more diverse reference panels.

The accuracy of polygenic score models for anthropometric traits and Type II Diabetes in the Native Hawaiian Population

This study evaluates polygenic score models for anthropometric traits and Type II Diabetes in Native Hawaiians, finding reduced accuracy compared to European- or East Asian-ancestry populations.

Tree-based QTL mapping with expected local geneticrelatedness matrices

This paper introduces a QTL mapping method using expected local genetic relatedness matrices derived from ancestral recombination graphs, improving detection of QTLs in populations with limited imputation resources.

Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics

This paper introduces HAMSTA, a method to estimate heritability from admixture mapping summary statistics while adjusting for ancestral stratification bias, and applies it to African American datasets.

Shared genetic basis informs the roles of polyunsaturated fatty acids in brain disorders

The paper examines the shared genetic basis between polyunsaturated fatty acids and brain disorders using genome-wide association data and identifies causal relationships and shared variants.

Evaluating Genomic Polygenic Risk Scores for Childhood Acute Lymphoblastic Leukemia in Latinos

This study evaluates polygenic risk scores for childhood ALL in Latinos, finding similar performance between non-Latino white and Latino samples but lower accuracy than a conventional model using known ALL-associated loci.

Recombination map tailored to Native Hawaiians improves robustness of genomic scans for positive selection

The paper constructs population-specific recombination maps for Native Hawaiians to improve the accuracy of genomic scans for positive selection.

Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing

The paper identifies inverted genomic regions between human reference genome builds that affect imputation accuracy and association testing power, proposing a heuristic to correct these issues.

Deciphering signatures of natural selection via deep learning

This paper introduces DeepGenomeScan, a deep learning framework that improves detection of genomic regions under natural selection, outperforming traditional methods in identifying loci associated with complex selection patterns.

Variant to function mapping at single-cell resolution through network propagation

The paper introduces SCAVENGE, a method mapping causal variants to cellular contexts at single-cell resolution, identifying disease-relevant cell types and mechanisms.

Kernel Local Fisher Discriminant Analysis of Principal Components (KLFDAPC) significantly improves the accuracy of predicting geographic origin of individuals

KLFDAPC improves geographic origin prediction by enhancing population separability and accuracy compared to PCA and DAPC.

A genealogical estimate of genetic relationships

This paper introduces an eGRM framework that estimates genetic relationships using coalescent theory and ancestral recombination graphs, showing improved population structure detection compared to traditional GRMs.

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

Genome-wide transethnic meta-analysis identifies novel susceptibility loci for childhood acute lymphoblastic leukemia

This study identifies five novel genetic loci associated with childhood acute lymphoblastic leukemia through a trans-ethnic meta-analysis across four ethnic groups.

Genetic Determinants of Blood Cell Traits Influence Susceptibility to Childhood Acute Lymphoblastic Leukemia

This study identifies genetic variants influencing blood cell traits linked to increased susceptibility to childhood acute lymphoblastic leukemia.

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

Association of Structural Variation with Cardiometabolic Traits in Finns

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

The impact of global and local Polynesian genetic ancestry on complex traits in Native Hawaiians

This study investigates the association between Polynesian genetic ancestry and cardiometabolic traits in Native Hawaiians, finding increased risks for diabetes, heart failure, and BMI, but limited replication of a T2D-associated chr6 variant.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

Population specific reference panels are crucial for the genetic analyses of Native Hawai’ians: an example of the CREBRF locus

The paper shows that lack of Polynesian representation in genetic reference panels hinders discovery of population-specific variants, but accurate imputation is possible with a small number of Polynesian references.

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

The paper re-examines polygenic adaptation at height-associated loci in Sardinians and mainland Europeans using UKB and BBJ data, finding evidence of adaptation in Sardinians and a subtle signal in mainland Europeans.

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

This study uses ancient DNA to trace Sardinia's population history from the Neolithic to the present, finding genetic continuity and limited Bronze Age Steppe ancestry.

Population history of the Sardinian people inferred from whole-genome sequencing

This study uses whole-genome sequencing of 3,514 Sardinians to explore population history, finding genetic isolation in the Gennargentu region and sex-biased demographic patterns.