Peter Loof Møller

This study uses functionality-informed fine mapping to identify causal variants and pathways contributing to coronary artery disease risk using GWAS summary statistics from over a million individuals.

This study identifies 20 GWAS risk genes in smooth muscle cells linked to coronary artery disease and reveals shared disease mechanisms across different gene types.

This study identifies genetic regulation of plasma proteins in children and adolescents, finding obesity- and age-dependent pQTLs and potential causal links to cardiometabolic traits.

The paper identifies rare variants in the ASTN2 locus associated with migraine, independent of GWAS findings, and proposes a role for Polycomb Response Elements in migraine etiology.

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.

The paper develops a method to detect copy neutral chromosomal losses in leukemia and lymphoma using allelic imbalance and read depth ratio comparison from whole exome sequencing data.

ACEseq estimates allele-specific copy numbers, tumor purity, ploidy, and homologous recombination deficiency scores from tumor whole-genome sequencing by combining GC-bias correction, replication-timing correction, and structural variant breakpoints.