Christopher A. Haiman

Genetic and Cellular Architecture of Breast Cancer Risk Across Ancestries

This study analyzes breast cancer GWAS across multiple ancestries, finding similar heritability and genetic correlations, and identifies shared regulatory and cellular contexts.

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups

PRANA adapts polygenic risk scores to non-European populations, improving predictive accuracy by 5%-20% in South Asian, East Asian, and Ashkenazi Jewish populations.

An Efficient Lasso Framework for Admixture-Aware Polygenic Scores

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

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.

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

Novel Genetic Risk Loci for Pancreatic Ductal Adenocarcinoma Identified in a Genome-wide Study of African Ancestry Individuals

This study identifies novel genetic risk loci for pancreatic ductal adenocarcinoma in African ancestry individuals through admixture mapping and GWAS.

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

Transcriptome-Wide Association Analysis Identifies Novel Candidate Susceptibility Genes for Prostate-Specific Antigen Levels in Men Without Prostate Cancer

MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

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.

Inferring compound heterozygosity from large-scale exome sequencing data

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

Genome-wide association study of prostate-specific antigen levels in 392,522 men identifies new loci and improves cross-ancestry prediction

This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

Genetically Adjusted PSA Levels for Prostate Cancer Screening

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

The power of TOPMed imputation for the discovery of Latino enriched rare variants associated with type 2 diabetes

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer.

Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity

This study improves polygenic risk scores for colorectal cancer by combining Asian and European ancestry data, enhancing risk prediction across diverse racial and ethnic groups.

Fine-Mapping and Credible Set Construction using a Multipopulation Joint Analysis of Marginal Summary Statistics from Genome-wide Association Studies

This paper introduces mJAM, a multi-population fine-mapping method that improves credible set construction by incorporating population-specific LD structures and demonstrates its effectiveness in real GWAS data.

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.

Associations of Minor Histocompatibility Antigens with Clinical Outcomes Following Allogeneic Hematopoietic Cell Transplantation

This study investigates the association between predicted minor histocompatibility antigens (mHAs) and clinical outcomes in allogeneic hematopoietic cell transplantation using multivariate survival models.

Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry: a Cross-Ancestry Approach

This paper develops polygenic risk scores for breast cancer prediction in women of African ancestry by combining African and European ancestry datasets, improving prediction accuracy.

Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries

The paper identifies 1,000 gene-level associations and conserved pathway associations for 25 traits across seven ancestries using enrichment analyses on large-scale GWA data.

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

The paper identifies breast cancer risk variants associated with tumor subtypes and shows their differential effects on luminal and non-luminal subtypes.

Prostate cancer risk stratification improved across multiple ancestries with new polygenic hazard score

The paper improves prostate cancer risk stratification across multiple ancestries using a new polygenic hazard score with additional SNPs, showing higher hazard ratios and positive predictive value for clinically significant prostate cancer.

Genome-wide association analyses identify variants in IRF4 associated with acute myeloid leukemia and myelodysplastic syndrome susceptibility

This study identifies IRF4 variants associated with increased risk of de novo AML and MDS through GWAS and TWAS analyses using the DISCOVeRY-BMT cohorts.

Rare copy number variants (CNVs) and breast cancer risk

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

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.