Publications

Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma.

Prosz A, Duan H, Tisza V, et al. Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.02.07.527498

Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.

Hofman DA, Ruiz-Orera J, Yannuzzi I, et al. Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.04.539399

PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis.

Zhang S, Strayer N, Vessels T, et al. PheMIME: An Interactive Web App and Knowledge Base for Phenome-Wide, Multi-Institutional Multimorbidity Analysis. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.07.23.23293047

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists.

Folkerts EK, Pelletier RC, Chung DC, et al. A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.02.08.23284667

Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.

Harvey WT, Ebert P, Ebler J, et al. Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.04.539448

Single Cell Transcriptomes, Lineage, and Differentiation of Functional Airway Microfold Cells.

Surve M V, Lin B, Reedy JL, et al. Single Cell Transcriptomes, Lineage, and Differentiation of Functional Airway Microfold Cells. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.06.552176

Profiling novel lateral gene transfer events in the human microbiome.

Hsu TY, Nzabarushimana E, Wong D, et al. Profiling novel lateral gene transfer events in the human microbiome. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.08.552500

Machine-guided design of synthetic cell type-specific -regulatory elements.

Gosai SJ, Castro RI, Fuentes N, et al. Machine-guided design of synthetic cell type-specific -regulatory elements. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.08.552077

Programmable multi-kilobase RNA editing using CRISPR-mediated trans-splicing.

Borrajo J, Javanmardi K, Griffin J, et al. Programmable multi-kilobase RNA editing using CRISPR-mediated trans-splicing. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.18.553620

Carriers of rare damaging genetic variants are at lower risk of atherosclerotic disease.

Georgakis MK, Malik R, Hasbani NR, et al. Carriers of rare damaging genetic variants are at lower risk of atherosclerotic disease. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.08.14.23294063

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Publications

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