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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
- 2022
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Mark
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
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- Contribution to journal › Article
- 2021
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Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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- Contribution to journal › Article
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Mark
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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- Contribution to journal › Article