Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations

Niina Sandholm, Ronja Hotakainen, Jani K Haukka, Fanny Jansson Sigfrids, Emma H. Dahlström, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Valma Harjutsalo, Carol Forsblom, Per-Henrik Groop & on behalf of the FinnDiane Study Group
We analyzed whole-exome (WES) and whole-genome sequencing (WGS) data of 481 and 474 individuals with type 1 diabetes, respectively. The phenotypic data consisted of 79 serum lipid and apolipoprotein phenotypes obtained with clinical laboratory measurements and nuclear magnetic resonance spectroscopy.
The available summary statistic include the single variant results, as well as the SKAT and VT results for protein altering and protein truncating variants with a maximum minor allele frequency cutoff of 5%. for...
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