GoT D

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

T.M. Teslovich, Nancy Jean Cox, T D-GENES, M. Laakso et autres

Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare …

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Automated, scalable quality control of heterogeneous exome sequence data

Ryan Koesterer, Marcin von Grotthuss, Jason A. Flannick, GoT D et autres

In the coming years, hundreds of thousands of samples will be sequenced to identify associations between genetic variation and complex phenotypes. To avoid false-positive findings but maintain power, stringent quality control (QC) procedures must be applied to these data. Current QC approaches …

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[Thyroid dysgenesis in mother and daughter].

Bacri Jl, GoT D, Job Jc

A case of congenital hypothyroidism with lingual thyroid in a woman and her daughter is presented. The scarcity of familial cases of thyroid malformations leads to discuss the genetic factors involved.