Doruk Beyter

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.

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.

Strelka2 is a variant calling tool that improves accuracy and reduces compute cost for germline and somatic variant detection in clinical sequencing.