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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
- Contribution to journal › Article
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Mark
The genetic basis of the kākāpō structural color polymorphism suggests balancing selection by an extinct apex predator
- Contribution to journal › Article
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Mark
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
- Contribution to journal › Article
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Mark
Inferring compound heterozygosity from large-scale exome sequencing data
- 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
- 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
- Contribution to journal › Article
- 2023
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Mark
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
- Contribution to journal › Article
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Mark
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
- 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
- Contribution to journal › Article
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Mark
A large meta-analysis identifies genes associated with anterior uveitis
- Contribution to journal › Article
