Bjarni V. Halldórsson

This study identifies 58 genomic regions associated with meiotic recombination, 24 of which are sex-specific, and finds a moderate genetic correlation between male and female recombination rates.

GGTyper genotypes complex structural variants from short-read sequencing data, achieving high accuracy across simulated and real genomes.

Whole-genome sequencing of 490,640 UK Biobank participants calls SNPs, insertions/deletions, and structural variants and maps binary and quantitative phenotype associations across five ancestry groups.

The paper analyzes whole genome sequences of 150,119 UK Biobank individuals, identifying variants and associations with traits, and provides a haplotype reference panel for imputation.

The paper was withdrawn due to premature posting and is not intended to be cited for the UK Biobank Pharma Proteomics Project.

PopIns2 detects non-reference sequence variants across large genome datasets using a colored de Bruijn graph approach, showing improved scalability and precision.

The paper uses long-read sequencing on 3,622 Icelanders to identify structural variants and their associations with diseases and traits.

The paper develops adVNTR-NN to genotype VNTRs efficiently and identifies eVNTR loci associated with gene expression in multiple tissues.

PopDel identifies medium-size deletions in tens of thousands of genomes with high accuracy and scalability.

Ratatosk corrects long read errors using a de Bruijn graph and accurate short reads, improving variant calling and assembly accuracy.

This study benchmarks small variant detection using ONT long-read sequencing, showing high performance in challenging genomic regions compared to short-read sequencing.

read_haps detects same-species contamination in DNA sequences by identifying three haplotypes from short read whole genome sequencing data.

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

The paper shows that non-transmitted parental alleles affect a child's traits through their impact on parents and relatives, termed genetic nurture, with significant effects on educational attainment and other traits.

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.

Graphtyper efficiently genotypes sequence variants in large populations using pangenome graphs, achieving high accuracy and scalability.

KmerStream estimates sequencing error rates and genome size using k-mer frequency statistics, showing variability in error rates between sequencing runs.