Richard Durbin

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

The paper integrates genetic and cell biological data from human iPSC lines to identify intrinsic and extrinsic factors driving inter-individual variability in cell behavior.

This paper evaluates GRCh38 and de novo haploid assemblies, finding that GRCh38 remains superior for complex genomic regions and coding sequences despite improvements in newer assemblies.

The paper tests whether recombination suppression mechanisms like inversions maintain species barriers in sympatric Heliconius butterflies, finding no evidence for such mechanisms.

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

This study compares structural genome dynamics between domesticated and wild yeasts using long-read sequencing, revealing differences in rearrangement rates and types.

The paper constructs a haplotype reference panel for genotype imputation, enabling accurate imputation at low minor allele frequencies and enhancing association studies.

The paper compares genome sequences from Finnish and British populations to identify genetic variants enriched in a population bottleneck, finding significant enrichment of rare variants in Finns.

This paper introduces a population BWT data structure to efficiently store and analyze sequencing reads from thousands of human genomes, enabling variant calling and viral detection.

This study analyzes 522 human iPSCs to identify genetic sources of phenotypic variation, finding 5-25% of variation in traits like differentiation capacity is due to individual differences.

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.

The paper uses pathway-based factor analysis on gene expression data to identify heritable phenotypes linked to age, finding 69 significant associations across KEGG pathways.

The paper uses RNA-seq and twin data to quantify gene-gene and gene-environment interactions affecting allelic specific expression.

This paper introduces a method to infer human population size and separation history using multiple genome sequences, revealing ancient genetic splits and recent population events.