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Publications

Hidden protein-altering variants influence diverse human phenotypes.

Hujoel MLA, Handsaker RE, Sherman MA, et al. Hidden protein-altering variants influence diverse human phenotypes. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.07.544066

DNA methylation signatures of early life adversity are exposure-dependent in wild baboons.

Anderson JA, Lin D, Lea AJ, et al. DNA methylation signatures of early life adversity are exposure-dependent in wild baboons. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.05.542485

Therapy-associated remodeling of pancreatic cancer revealed by single-cell spatial transcriptomics and optimal transport analysis.

Shiau C, Cao J, Gregory MT, et al. Therapy-associated remodeling of pancreatic cancer revealed by single-cell spatial transcriptomics and optimal transport analysis. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.28.546848

Association of Clonal Hematopoiesis of Indeterminate Potential with Incident Heart Failure with Preserved Ejection Fraction.

Reiner AP, Roberts MB, Honigberg MC, et al. Association of Clonal Hematopoiesis of Indeterminate Potential with Incident Heart Failure with Preserved Ejection Fraction. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.07.23291038

Rapid and Multiplexed Nucleic Acid Detection using Programmable Aptamer-Based RNA Switches.

Yan Z, Tang AA, Eshed A, et al. Rapid and Multiplexed Nucleic Acid Detection using Programmable Aptamer-Based RNA Switches. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.02.23290873

Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.

Kasela S, Aguet F, Kim-Hellmuth S, et al. Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.26.546528

Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk.

Vessels T, Strayer N, Choi KW, et al. Identifying modifiable comorbidities of schizophrenia by integrating electronic health records and polygenic risk. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.01.23290057

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study.

Wang Y, Selvaraj MS, Li X, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.28.23291966

Unbiased single-cell morphology with self-supervised vision transformers.

Doron M, Moutakanni T, Chen ZS, et al. Unbiased single-cell morphology with self-supervised vision transformers. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.16.545359

Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome.

Engal E, Oja KT, Maroofian R, et al. Biallelic loss of function variants in , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.19.23291425