Considerations for clinical read alignment and mutational profiling using next-generation sequencing

por Oliver, Gavin R
Publicado 2012

“The molecule’s the thing:” the promise of molecular modeling and dynamic simulations in aiding the prioritization and interpretation of genomic testing results

por Oliver, Gavin R., Zimmermann, Michael T., Klee, Eric W., Urrutia, Raul A.
Publicado 2016

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

por Zimmermann, Michael T., Urrutia, Raul, Cousin, Margot A., Oliver, Gavin R., Klee, Eric W.
Publicado 2018

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

por Jenkinson, Garrett, Li, Yang I, Basu, Shubham, Cousin, Margot A, Oliver, Gavin R, Klee, Eric W
Publicado 2020

Identification of differentially expressed sense and antisense transcript pairs in breast epithelial tissues

por Grigoriadis, Anita, Oliver, Gavin R, Tanney, Austin, Kendrick, Howard, Smalley, Matt J, Jat, Parmjit, Neville, A Munro
Publicado 2009

Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

por Morales‐Rosado, Joel A., Macke, Erica L., Cousin, Margot A., Oliver, Gavin R., Dhamija, Radhika, Klee, Eric W.
Publicado 2020

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...

por Zimmermann, Michael T., Urrutia, Raul, Oliver, Gavin R., Blackburn, Patrick R., Cousin, Margot A., Bozeck, Nicole J., Klee, Eric W.
Publicado 2017

PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data

por Hart, Steven N., Moore, Raymond M., Zimmermann, Michael T., Oliver, Gavin R., Egan, Jan B., Bryce, Alan H., Kocher, Jean-Pierre A.
Publicado 2015

The Colorectal cancer disease-specific transcriptome may facilitate the discovery of more biologically and clinically relevant information

por Allen, Wendy L, Jithesh, Puthen V, Oliver, Gavin R, Proutski, Irina, Longley, Daniel B, Lenz, Heinz-Josef, Proutski, Vitali, Harkin, Paul, Johnston, Patrick G
Publicado 2010

310 Transcriptomics for gallbladder cancer prognosis

por 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.
Publicado 2022

P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants

por DeVoe, Elias, Oliver, Gavin R, Zenka, Roman, Blackburn, Patrick R, Cousin, Margot A, Boczek, Nicole J, Kocher, Jean-Pierre A, Urrutia, Raul, Klee, Eric W, Zimmermann, Michael T
Publicado 2021

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

por Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.
Publicado 2017

The Hedgehog pathway as targetable vulnerability with 5-azacytidine in myelodysplastic syndrome and acute myeloid leukemia

por Tibes, Raoul, Al-Kali, Aref, Oliver, Gavin R, Delman, Devora H, Hansen, Nanna, Bhagavatula, Keerthi, Mohan, Jayaram, Rakhshan, Fariborz, Wood, Thomas, Foran, James M., Mesa, Ruben A., Bogenberger, James M.
Publicado 2015

Generation of a non-small cell lung cancer transcriptome microarray

por Tanney, Austin, Oliver, Gavin R, Farztdinov, Vadim, Kennedy, Richard D, Mulligan, Jude M, Fulton, Ciaran E, Farragher, Susan M, Field, John K, Johnston, Patrick G, Harkin, D Paul, Proutski, Vitali, Mulligan, Karl A
Publicado 2008

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

por 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.
Publicado 2019

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

por Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, van der Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Publicado 2019

PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data

por Wang, Chen, Evans, Jared M., Bhagwate, Aditya V., Prodduturi, Naresh, Sarangi, Vivekananda, Middha, Mridu, Sicotte, Hugues, Vedell, Peter T., Hart, Steven N., Oliver, Gavin R., Kocher, Jean-Pierre A., Maurer, Matthew J., Novak, Anne J., Slager, Susan L., Cerhan, James R., Asmann, Yan W.
Publicado 2014

SeekFusion - A Clinically Validated Fusion Transcript Detection Pipeline for PCR-Based Next-Generation Sequencing of RNA

por 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.
Publicado 2021

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma

por 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.
Publicado 2017

COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

por 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
Publicado 2021