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Profil bibliographique

B. Tomlinson

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

4Publications signalées
3Citations signalées
0Affiliations récentes

Les domaines associés

Genetic Associations and EpidemiologyBioinformatics and Genomic NetworksGenomics and Rare DiseasesGenetics, Bioinformatics, and Biomedical ResearchNutrition, Genetics, and Disease

Les publications récentes

Accès ouvert 2021 article OpenAlex

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

T.M. Teslovich, Nancy J. 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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1 citation Carolina Digital Repository (University of North Carolina at Chapel Hill)
Accès ouvert 2021 article OpenAlex

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

N. Grarup, T.I. Pollin, S.‐H. Han, R.C.W. Ma et autres

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains …

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1 citation UNC Libraries
Accès ouvert 2021 article OpenAlex

Identification of type 2 diabetes loci in 433,540 East Asian individuals

H.S. Choi, Y. Kamatani, J.I. Rotter, J.-M. Yuan et autres

Meta-analyses of genome-wide association studies (GWAS) have identified more than 240 loci that are associated with type 2 diabetes (T2D)1,2; however, most of these loci have been identified in analyses of individuals with European ancestry. Here, to examine T2D risk in East …

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0 citations Carolina Digital Repository (University of North Carolina at Chapel Hill)

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