Joseph K. Pickrell

Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms

The paper performs genotype inference from aggregated chromatin accessibility data to identify caQTLs and their links to gene expression and complex traits.

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

The paper imputes structural variants using a multi-ancestry long-read sequencing panel and identifies disease associations in large-scale datasets.

Low-pass sequencing plus imputation using avidity sequencing displays comparable imputation accuracy to sequencing by synthesis while reducing duplicates

This study compares imputation accuracy between avidity sequencing and sequencing by synthesis, finding comparable performance with lower duplication rates in avidity sequencing.

Variance component estimates, phenotypic characterization, and genetic evaluation of bovine congestive heart failure in commercial feeder cattle

The paper estimates variance components, characterizes phenotypes, and evaluates genetic factors associated with bovine congestive heart failure in commercial feeder cattle.

Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays

This study compares low-pass sequencing and genotyping arrays for GWAS and polygenic risk scores, finding sequencing provides higher power and accuracy.

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations

This study shows low-coverage sequencing is more accurate and cost-effective than GWAS arrays for detecting genetic variation in diverse African populations.

Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics

This study compares low-pass sequencing and genotyping arrays for pharmacogenetic trait mapping, finding that low-pass sequencing at 0.4x coverage achieves comparable imputation accuracy to genotyping arrays.

Relative matching using low coverage sequencing

This study shows that low coverage sequencing can effectively match relatives with genotyping arrays, achieving similar accuracy for close relatives and strong correlation for distant ones.

DNA.Land: A Digital Biobank Using A Massive Crowdsourcing Approach

DNA.Land collects genomes and phenomes at scale using crowdsourcing from DTC companies, achieving 43,000 genomes in 20 months with reduced resources.

The population genetics of human disease: the case of recessive, lethal mutations

The paper examines the frequencies of recessive lethal mutations in human populations and finds they are higher than expected, suggesting ascertainment bias rather than mutation-selection balance.

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

The paper identifies response eQTLs that modify genetic regulation during immune activation and shows their enrichment in autoimmune disease GWAS signals.

Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

The paper identifies genetic variants associated with subjective well-being, depressive symptoms, and neuroticism using genome-wide association studies and proxy-phenotype analyses.

Approximately independent linkage disequilibrium blocks in human populations

The paper introduces a method to identify independent LD blocks in human populations for automated analysis of genome-wide association studies.

Detection and interpretation of shared genetic influences on 40 human traits

This study identifies 307 genetic loci influencing multiple human traits and finds shared genetic causes between traits like BMI and height, and causal relationships between BMI and triglycerides.

Fulfilling the promise of Mendelian randomization

This paper discusses the challenges and potential of Mendelian randomization in establishing causal relationships in medical research.