Richard Durbin

GBZ-base and GAF-base: Indexed pangenome file formats

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

Identifying extrinsic versus intrinsic drivers of variation in cell behaviour in human iPS cell lines from healthy donors

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.

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

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.

Recombination Suppression is Unlikely to Contribute to Speciation in Sympatric Heliconius Butterflies

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

Contrasting genome dynamics between domesticated and wild yeasts

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

A reference panel of 64,976 haplotypes for genotype imputation

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

Whole genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

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.

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.

Using reference-free compressed data structures to analyse sequencing reads from thousands of human genomes

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.

Common genetic variation drives molecular heterogeneity in human iPSCs

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.

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

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.

Iron Age and Anglo-Saxon genomes from East England reveal British migration history

The paper analyzes ancient genomes from Iron Age and Anglo-Saxon periods in East England to estimate the genetic impact of migrations on modern British populations.

Pathway based factor analysis of gene expression data produces highly heritable phenotypes that associate with age

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.

Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions

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

Inferring human population size and separation history from multiple genome sequences

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.