Human Publications

Human

A comparison between low-cost library preparation kits for low coverage sequencing (2024)

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Human

Concordance of whole-genome amplified embryonic DNA with the subsequently born child (2024)

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Human

First clinical validation of whole genome screening on standard trophectoderm biopsies of preimplantation embryos (2024)

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Human

GWAS and PRS-PheWAS across complex phenotypes in the human phenotype project (2024)

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Human

Low-pass sequencing plus imputation using avidity sequencing displays comparable imputation accuracy to sequencing by synthesis while reducing duplicates (2024)

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Human

Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations (2023)

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Human

The effects of reference panel perturbations on the accuracy of genotype imputation (2023)

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Human

Cell type-specific and disease-associated eQTL in the human lung (2023)

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Human

Epigenetic age acceleration and chronological age: Associations with cognitive performance in daily life (2023)

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Human

Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays (2021)

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Human

Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics (2021)

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Human

Relative matching using low coverage sequencing (2020)

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