Author
Helsinki University HospitalORCID 0000-0003-3197-7626Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton…·Bong-Jo Kim
The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.
Heidi M Hautakangas, Bendik Slagsvold Winsvold, Sanni Ruotsalainen…·Matti Pirinen
This GWAS identifies 123 migraine risk loci, including subtype-specific variants and novel targets, supporting neurovascular mechanisms in migraine.
Qingbo S. Wang, Emma Pierce‐Hoffman, Beryl B. Cummings…·George Kirov
The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.
Padhraig Gormley, Mitja Kurki, Marjo Eveliina Hiekkala…·George McMahon
This study shows common genetic variants significantly contribute to migraine family clustering, with higher burden in familial cases compared to population-based cases.
Padhraig Gormley, Verneri Anttila, Bendik S Winsvold…·Ville Art
This study identifies 38 new migraine susceptibility loci through a meta-analysis of 375,000 individuals, including the first locus on chromosome X.