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Publications

Cue: a deep-learning framework for structural variant discovery and genotyping.

Popic V, Rohlicek C, Cunial F, et al. Cue: a deep-learning framework for structural variant discovery and genotyping. Nature methods. 2023;20(4):559-568. doi:10.1038/s41592-023-01799-x

Adjusting for common variant polygenic scores improves yield in rare variant association analyses.

Jurgens SJ, Pirruccello JP, Choi SH, et al. Adjusting for common variant polygenic scores improves yield in rare variant association analyses. Nature genetics. 2023;55(4):544-548. doi:10.1038/s41588-023-01342-w

Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.

Seyerle AA, Laurie CA, Coombes BJ, et al. Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program. Circulation. Genomic and precision medicine. 2023;16(2):e003532. doi:10.1161/CIRCGEN.121.003532

Plasma lipidome and risk of atrial fibrillation: results from the PREDIMED trial.

Toledo E, Wittenbecher C, Razquin C, et al. Plasma lipidome and risk of atrial fibrillation: results from the PREDIMED trial. Journal of physiology and biochemistry. 2023. doi:10.1007/s13105-023-00958-0

Histopathology images predict multi-omics aberrations and prognoses in colorectal cancer patients.

Tsai PC, Lee TH, Kuo KC, et al. Histopathology images predict multi-omics aberrations and prognoses in colorectal cancer patients. Nature communications. 2023;14(1):2102. doi:10.1038/s41467-023-37179-4

Comprehensive Functional Annotation of Metagenomes and Microbial Genomes Using a Deep Learning-Based Method.

Maranga M, Szczerbiak P, Bezshapkin V, et al. Comprehensive Functional Annotation of Metagenomes and Microbial Genomes Using a Deep Learning-Based Method. mSystems. 2023;8(2):e0117822. doi:10.1128/msystems.01178-22

Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease.

Jowell A, Bhattacharya R, Marnell C, et al. Genetic and Clinical Factors Underlying a Self-Reported Family History of Heart Disease. European journal of preventive cardiology. 2023. doi:10.1093/eurjpc/zwad096

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Schmid CM, Gregor A, Costain G, et al. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100839. doi:10.1016/j.gim.2023.100839

Flavonoid intake and survival after diagnosis of colorectal cancer: a prospective study in 2 US cohorts.

Shi S, Wang K, Zhong R, et al. Flavonoid intake and survival after diagnosis of colorectal cancer: a prospective study in 2 US cohorts. The American journal of clinical nutrition. 2023. doi:10.1016/j.ajcnut.2023.03.026

Author Correction: Molecular bottlebrush prodrugs as mono- and triplex combination therapies for multiple myeloma.

Detappe A, Nguyen HVT, Jiang Y, et al. Author Correction: Molecular bottlebrush prodrugs as mono- and triplex combination therapies for multiple myeloma. Nature nanotechnology. 2023;18(4):419. doi:10.1038/s41565-023-01345-y