Snædís Kristmundsdóttir

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

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

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

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