Population- and individual-specific regulatory variation in Sardinia.
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ABSTRACT:
SUBMITTER: Pala M
PROVIDER: S-EPMC5411016 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Publications
Population- and individual-specific regulatory variation in Sardinia.
Pala Mauro M Zappala Zachary Z Marongiu Mara M Li Xin X Davis Joe R JR Cusano Roberto R Crobu Francesca F Kukurba Kimberly R KR Gloudemans Michael J MJ Reinier Frederic F Berutti Riccardo R Piras Maria G MG Mulas Antonella A Zoledziewska Magdalena M Marongiu Michele M Sorokin Elena P EP Hess Gaelen T GT Smith Kevin S KS Busonero Fabio F Maschio Andrea A Steri Maristella M Sidore Carlo C Sanna Serena S Fiorillo Edoardo E Bassik Michael C MC Sawcer Stephen J SJ Battle Alexis A Novembre John J Jones Chris C Angius Andrea A Abecasis Gonçalo R GR Schlessinger David D Cucca Francesco F Montgomery Stephen B SB
Nature genetics 20170410 5
Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicing. We identified 21,183 expression quantitative trait loci (eQTLs) and 6,768 splicing quantitative trait loci (sQTLs), including 619 new QTLs. We identified high-frequency QTLs and ...[more]
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