Alkes L Price

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

This study connects schizophrenia GWAS findings to specific genes, tissues, and regulatory mechanisms through transcriptome-wide and chromatin activity analyses.

Dissecting the genetics of complex traits using summary association statistics

This paper reviews statistical methods that use summary association statistics to analyze genetic data from GWAS and gain insights into complex traits and diseases.

Reference-based phasing using the Haplotype Reference Consortium panel

This paper introduces Eagle2, a reference-based phasing algorithm that improves accuracy and speed compared to SHAPEIT2 using the Haplotype Reference Consortium panel.

Population structure of UK Biobank and ancient Eurasians reveals adaptation at genes influencing blood pressure

The paper uses UK Biobank and ancient Eurasian data to identify genetic adaptations linked to blood pressure, finding significant selection signals at FUT2, CYP1A2/CSK, and ATXN2/SH2B3.

Fast principal components analysis reveals convergent evolution of ADH1B gene in Europe and East Asia

The paper introduces FastPCA, a method for detecting natural selection by analyzing principal components, and identifies new selection signals including ADH1B in Europeans and East Asians.

Transethnic genetic correlation estimates from summary statistics

This paper estimates transethnic genetic correlations using summary statistics from GWAS data and finds they are significantly less than 1 for gene expression, rheumatoid arthritis, and type-two diabetes.

Abundant contribution of short tandem repeats to gene expression variation in humans

The paper identifies 2,060 expression STRs (eSTRs) contributing 10%-15% of cis-heritability to gene expression, highlighting their role as regulatory variants.

Fast and accurate long-range phasing in a UK Biobank cohort

This paper introduces Eagle, a fast and accurate long-range phasing method applied to the UK Biobank cohort, achieving high accuracy and speed for rare variant imputation.

An Atlas of Genetic Correlations across Human Diseases and Traits

The paper estimates genetic correlations between 25 traits using GWAS summary statistics, identifying correlations like anorexia nervosa with schizophrenia and educational attainment with diseases.

Integrative approaches for large-scale transcriptome-wide association studies

The paper integrates gene expression and GWAS data to identify novel genes associated with obesity-related traits.

Two variance component model improves genetic prediction in family data sets

This paper introduces a two variance component model that improves genetic prediction in family data by jointly modeling IBS sharing and pedigree structure, achieving higher prediction accuracy and correcting inflated test statistics.

Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

The paper analyzes the genetic architecture of schizophrenia and nine complex diseases using a fast variance components analysis, finding polygenic patterns and significant genetic correlations.

Efficient Bayesian mixed model analysis increases association power in large cohorts

BOLT-LMM improves genetic association power in large cohorts by using a Bayesian mixture prior to model non-infinitesimal genetic architectures more realistically.

Regulatory variants explain much more heritability than coding variants across 11 common diseases

The paper shows regulatory variants explain significantly more heritability than coding variants for 11 diseases, using imputed data across 218 cell types.