Jonathan K Pritchard

This study identifies genotype as the major source of variation in scRNA-seq data and highlights technical replicate variation, suggesting a framework for effective study design.

This study examines how variable mutation rates and epistasis affect the phylogenetically-conditioned site frequency spectrum in humans using ExAC and primate genome data.

This study identifies 7,273 new human coding sequences using ribosome footprint profiling and validates their functionality through selective constraint and translation correlation analysis.

This study detects recent human adaptation over the past 2,000 years using the Singleton Density Score, revealing selection signals for lactase, HLA, height, and other complex traits.

The paper identifies a novel gene MMA1 required for secretory granule maturation in Tetrahymena thermophila through whole genome sequencing of a mutant strain.

The paper shows that tandem duplicate genes in mammals evolve slowly toward subfunctionalization due to co-regulation, supporting dosage-sharing as a key mechanism for their survival.

This study compares regulatory differences in iPSCs and finds that genetic variation, not cell type of origin, primarily drives these differences.

This study shows that reprogramming LCLs to iPSCs recovers donor-specific gene expression signatures, suggesting iPSCs better reflect genetic influences on gene regulation than LCLs.

The paper introduces msCentipede, a model that improves transcription factor binding site inference by better modeling DNase I cleavage pattern heterogeneity and spatial structure.

The paper develops fast variational Bayesian algorithms for inferring population structure in large SNP datasets, achieving speed improvements over STRUCTURE and comparable accuracy to ADMIXTURE.