Samples from the Greek island of Crete, MANOLIS cohort

Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low frequency and rare variants, which are hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work focuses on isolated populations from Greece. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others in extended haplotype contexts, supporting accurate imputation.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 4 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001001636	Whole-genome sequencing at 4x of 250 samples from the Greek isolatecollection HELIC	Illumina HiSeq 2000	250

Publications	Citations
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J, Tachmazidou I, Matchan A, Rayner NW, Tsafantakis E, Karaleftheri M, Xue Y, Dedoussis G, Zeggini E. Nat Commun 8: 2017 15606	57
Very low-depth whole-genome sequencing in complex trait association studies. Gilly A, Southam L, Suveges D, Kuchenbaecker K, Moore R, Melloni GEM, Hatzikotoulas K, Farmaki AE, Ritchie G, Schwartzentruber J, Danecek P, Kilian B, Pollard MO, Ge X, Tsafantakis E, Dedoussis G, Zeggini E. Bioinformatics 35: 2019 2555-2561	45
The transferability of lipid loci across African, Asian and European cohorts. Kuchenbaecker K, Telkar N, Reiker T, Walters RG, Lin K, Eriksson A, Gurdasani D, Gilly A, Southam L, Tsafantakis E, Karaleftheri M, Seeley J, Kamali A, Asiki G, Millwood IY, Holmes M, Du H, Guo Y, Kumari M, Dedoussis G, Li L, Chen Z, Sandhu MS, Zeggini E, Understanding Society Scientific Group. Nat Commun 10: 2019 4330	56
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations. Kuchenbaecker K, Gilly A, Suveges D, Southam L, Giannakopoulou O, Kilian B, Tsafantakis E, Karaleftheri M, Farmaki AE, Gurdasani D, Kundu K, Sandhu MS, Danesh J, Butterworth A, Barroso I, Dedoussis G, Zeggini E. Sci Rep 12: 2022 1131	2