Benjamin M Neale

A protein truncating R179X variant in RNF186 confers protection against ulcerative colitis

The paper identifies a protein truncating variant in RNF186 that protects against ulcerative colitis by reducing disease risk.

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.

Subtle stratification confounds estimates of heritability from rare variants

This study shows that subtle population stratification can confound heritability estimates from rare variants, even after standard corrections, suggesting the need for better stratification control in genetic studies.

A method to exploit the structure of genetic ancestry space to enhance case-control studies

This paper introduces a method to improve case-control genetic studies by using ancestry-based statistical tools to estimate allele frequencies without direct access to control data.

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

The paper identifies genetic links between autism spectrum disorders and typical variation in social behavior and adaptive functioning in the general population.

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.

Haplotypes of common SNPs can explain missing heritability of complex diseases

The paper shows that haplotypes of common SNPs explain more heritability of complex diseases than individual SNPs alone.

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.