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- 2024
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
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- Contribution to journal › Article
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
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- Contribution to journal › Article
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Mark
Lifestyle and genetic risk of chronic liver disease in metabolically healthy and unhealthy individuals from the general population
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- Contribution to journal › Article
- 2023
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Mark
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
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- Contribution to journal › Article
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Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
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- Contribution to journal › Article
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Mark
A large meta-analysis identifies genes associated with anterior uveitis
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- Contribution to journal › Article
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Mark
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
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- Contribution to journal › Article
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Mark
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
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- Contribution to journal › Article
- 2022
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Mark
A saturated map of common genetic variants associated with human height
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- Contribution to journal › Article
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
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- Contribution to journal › Article