LeafCutterMD: an algorithm for outlier splicing detection in rare diseases von Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W

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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation von Sankaranarayanan, Saranya, Balan, Jagadheshwar, Walsh, Jesse R, Wu, Yanhong, Minnich, Sara, Piazza, Amy, Osborne, Collin, Oliver, Gavin R, Lesko, Jessica, Bates, Kathy L, Khezeli, Kia, Block, Darci R, DiGuardo, Margaret, Kreuter, Justin, O’Horo, John C, Kalantari, John, Klee, Eric W, Salama, Mohamed E, Kipp, Benjamin, Morice, William G, Jenkinson, Garrett

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease von Oliver, Gavin R, Tang, Xiaojia, Schultz-Rogers, Laura E, Vidal-Folch, Noemi, Jenkinson, W Garrett, Schwab, Tanya L, Gaonkar, Krutika, Cousin, Margot A, Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease von Fadra, Numrah, Schultz-Rogers, Laura E, Chanana, Pritha, Cousin, Margot A, Macke, Erica L, Ferrer, Alejandro, Pinto E Vairo, Filippo, Olson, Rory J, Oliver, Gavin R, Mulvihill, Lindsay A, Jenkinson, Garrett, Klee, Eric W

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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation... von Zimmermann, Michael T, Urrutia, Raul, Oliver, Gavin R, Blackburn, Patrick R, Cousin, Margot A, Bozeck, Nicole J, Klee, Eric W

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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth von Oliver, Gavin R, Marcano-Bonilla, Sofia, Quist, Jonathan, Tolosa, Ezequiel J, Iguchi, Eriko, Swanson, Amy A, Hoppman, Nicole L, Schwab, Tanya, Sigafoos, Ashley, Prodduturi, Naresh, Voss, Jesse S, Knight, Shannon M, Zhang, Jin, Fadra, Numrah, Urrutia, Raul, Zimmerman, Michael, Egan, Jan B, Bilyeu, Anthony G, Jen, Jin, Veras, Ema, Al-Safi, Rema'a, Block, Matthew, Kerr, Sarah, Fernandez-Zapico, Martin E, Schoolmeester, John K, Klee, Eric W

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SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA von Balan, Jagadheshwar, Jenkinson, Garrett, Nair, Asha, Saha, Neiladri, Koganti, Tejaswi, Voss, Jesse, Zysk, Christopher, Barr Fritcher, Emily G., Ross, Christian A., Giannini, Caterina, Raghunathan, Aditya, Kipp, Benjamin R., Jenkins, Robert, Ida, Cris, Halling, Kevin C., Blackburn, Patrick R., Dasari, Surendra, Oliver, Gavin R., Klee, Eric W.

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Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors von Winters, Jennifer L., Davila, Jaime I., McDonald, Amber M., Nair, Asha A., Fadra, Numrah, Wehrs, Rebecca N., Thomas, Brittany C., Balcom, Jessica R., Jin, Long, Wu, Xianglin, Voss, Jesse S., Klee, Eric W., Oliver, Gavin R., Graham, Rondell P., Neff, Jadee L., Rumilla, Kandelaria M., Aypar, Umut, Kipp, Benjamin R., Jenkins, Robert B., Jen, Jin, Halling, Kevin C.

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Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies von Cousin, Margot A., Smith, Matthew J., Sigafoos, Ashley N., Jin, Jay J., Murphree, Marine I., Boczek, Nicole J., Blackburn, Patrick R., Oliver, Gavin R., Aleff, Ross A., Clark, Karl J., Wieben, Eric D., Joshi, Avni Y., Pichurin, Pavel N., Abraham, Roshini S., Klee, Eric W.

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Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties von Zimmermann, Michael T, Urrutia, Raul, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W

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Bioinformatics for clinical next generation sequencing von Oliver, Gavin R, Hart, Steven N, Klee, Eric W

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310 Transcriptomics for gallbladder cancer prognosis von Jackson, Linsey, Allotey, Loretta K., Valles, Kenneth, Oliver, Gavin R., Nair, Asha, Obrien, Daniel R., Graham, Rondell P., Borad, Mitesh J, Athreya, Arjun, Roberts, Lewis R.

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Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia von Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.

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Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues von Grigoriadis, Anita, Oliver, Gavin R, Tanney, Austin, Kendrick, Howard, Smalley, Matt J, Jat, Parmjit, Neville, A Munro

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Long-range Transcriptome Sequencing Reveals Cancer Cell Growth Regulatory Chimeric mRNA von Plebani, Roberto, Oliver, Gavin R, Trerotola, Marco, Guerra, Emanuela, Cantanelli, Pamela, Apicella, Luana, Emerson, Andrew, Albiero, Alessandro, Harkin, Paul D, Kennedy, Richard D, Alberti, Saverio

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Considerations for clinical read alignment and mutational profiling using next-generation sequencing [version 2; peer review: 2 approved, 1 not approved] von Oliver, Gavin R

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“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results von Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.

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Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma von Davila, Jaime I, Starr, Jason S, Attia, Steven, Wang, Chen, Knudson, Ryan A, Necela, Brian M, Sarangi, Vivekananda, Sun, Zhifu, Ren, Yingxue, Casler, John D, Menke, David M, Oliver, Gavin R, Joseph, Richard W, Copland, John A, Parker, Alexander S, Kocher, Jean-Pierre A, Thompson, E Aubrey, Smallridge, Robert C, Asmann, Yan W

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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data von Ferrer, Alejandro, Duffy, Patrick, Olson, Rory J., Meiners, Michael A., Schultz-Rogers, Laura, Macke, Erica L., Safgren, Stephanie, Morales-Rosado, Joel A., Cousin, Margot A., Oliver, Gavin R., Rider, David, Williams, Megan, Pichurin, Pavel N., Deyle, David R., Morava, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klass J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Kaiwar, Charu, Vitek, Carolyn R., McAllister, Tammy M., Wick, Myra J., Schimmenti, Lisa A., Lazaridis, Konstantinos N., Vairo, Filippo Pinto e, Klee, Eric W.

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"The molecule's the thing:" the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results [version 2; peer re... von Oliver, Gavin R, Zimmermann, Michael T, Klee, Eric W, Urrutia, Raul A

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