PheLiGe: an interactive database of billions of human genotype-phenotype associations

Tatiana I. Shashkova, Eugene D. Pakhomov, Denis D. Gorev, Lennart C. Karssen, Peter K. Joshi, Yurii S. Aulchenko

Результат исследования: Научные публикации в периодических изданияхстатьярецензирование

1 Цитирования (Scopus)


Genome-wide association studies have provided a vast array of publicly available SNP × phenotype association results. However, they are often in disparate repositories and formats, making downstream analyses difficult and time consuming. PheLiGe ( is a database that provides easy access to such results via a web interface. The underlying database currently stores >75 billion genotype-phenotype associations from 7347 genome-wide and 1.2 million region-wide (e.g. cis-eQTL) association scans. The web interface allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question. Furthermore, PheLiGe can compare regional patterns of association between different traits. This analysis can ascertain whether a co-association is due to pleiotropy or linkage. Moreover, comparison of association patterns for a complex trait of interest and gene expression and protein levels can implicate causal genes.

Язык оригиналаанглийский
Страницы (с-по)D1347-D1350
Число страниц4
ЖурналNucleic Acids Research
Номер выпускаD1
СостояниеОпубликовано - 8 янв. 2021


Подробные сведения о темах исследования «PheLiGe: an interactive database of billions of human genotype-phenotype associations». Вместе они формируют уникальный семантический отпечаток (fingerprint).