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Bonnefond et al., 2020 - Google Patents

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

Bonnefond et al., 2020

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Document ID
10802409474267010732
Author
Bonnefond A
Boissel M
Bolze A
Durand E
Toussaint B
Vaillant E
Gaget S
Graeve F
Dechaume A
Allegaert F
Guilcher D
Yengo L
Dhennin V
Borys J
Lu J
Cirulli E
Elhanan G
Roussel R
Balkau B
Marre M
Franc S
Charpentier G
Vaxillaire M
Canouil M
Washington N
Grzymski J
Froguel P
Publication year
Publication venue
Nature Metabolism

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Snippet

Genome-wide association studies have identified 240 independent loci associated with type 2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast, the genetic diagnosis of monogenic forms of diabetes (including maturity-onset diabetes of …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
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    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
    • G—PHYSICS
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    • G06F19/28—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
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    • G01N2800/042—Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism

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