Article
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Scientific reports - 21 Jan 2022
Kuchenbaecker Karoline, Gilly Arthur, Suveges Daniel, Southam Lorraine, Giannakopoulou Olga, Kilian Britt, Tsafantakis Emmanouil, Karaleftheri Maria, Farmaki Aliki-Eleni, Gurdasani Deepti, Kundu Kousik, Sandhu Manjinder S, Danesh John, Butterworth Adam, Barroso Inês, Dedoussis George, Zeggini Eleftheria
Abstract excerpt
Haematological traits are linked to cardiovascular, metabolic, infectious and immune disorders, as well as cancer. Here, we examine the role of genetic variation in shaping haematological traits in two isolated Mediterranean populations. Using whole-genome sequencing data at 22× depth for 1457 individuals from Crete (MANOLIS) and 1617 from the Pomak villages in Greece, we carry out a genome-wide association scan...
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