Search Results - "Reuter, Jason"

High-Throughput Sequencing Technologies by Reuter, Jason A., Spacek, Damek V., Snyder, Michael P.

“…The human genome sequence has profoundly altered our understanding of biology, human diversity, and disease. The path from the first draft sequence to our…”
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Recurrent somatic mutations in regulatory regions of human cancer genomes by Melton, Collin, Reuter, Jason A, Spacek, Damek V, Snyder, Michael

“…Michael Snyder and colleagues analyze whole-genome sequencing data from eight cancer subtypes and identify recurrent mutations in regulatory regions. They find…”
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DNMT1 maintains progenitor function in self-renewing somatic tissue by Khavari, Paul A, Sen, George L, Reuter, Jason A, Webster, Daniel E, Zhu, Lilly

“…Progenitor cells maintain self-renewing tissues throughout life by sustaining their capacity for proliferation while suppressing cell cycle exit and terminal…”
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Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2 by Ungewickell, Alexander, Bhaduri, Aparna, Rios, Eon, Reuter, Jason, Lee, Carolyn S, Mah, Angela, Zehnder, Ashley, Ohgami, Robert, Kulkarni, Shashikant, Armstrong, Randall, Weng, Wen-Kai, Gratzinger, Dita, Tavallaee, Mahkam, Rook, Alain, Snyder, Michael, Kim, Youn, Khavari, Paul A

“…Paul Khavari and colleagues report genomic analyses of cutaneous T cell lymphomas. They identify recurrent point mutations and genomic gains of TNFRSF1B ,…”
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Identification of significantly mutated regions across cancer types highlights a rich landscape of functional molecular alterations by Araya, Carlos L, Cenik, Can, Reuter, Jason A, Kiss, Gert, Pande, Vijay S, Snyder, Michael P, Greenleaf, William J

“…William Greenleaf, Michael Snyder, Carlos Araya and colleagues use density-based clustering methods on ~4,700 exomes from 21 tumor types to detect…”
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Simul-seq: combined DNA and RNA sequencing for whole-genome and transcriptome profiling by Reuter, Jason A, Spacek, Damek V, Pai, Reetesh K, Snyder, Michael P

“…Simul-seq profiles genomes and transcriptomes by uniquely barcoding DNA and RNA reads from the same material. Paired DNA and RNA profiling is increasingly…”
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Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification by Padigepati, Samskruthi Reddy, Stafford, David A., Tan, Christopher A., Silvis, Melanie R., Jamieson, Kirsty, Keyser, Andrew, Nunez, Paola Alejandra Correa, Nicoludis, John M., Manders, Toby, Fresard, Laure, Kobayashi, Yuya, Araya, Carlos L., Aradhya, Swaroop, Johnson, Britt, Nykamp, Keith, Reuter, Jason A.

“…As the adoption and scope of genetic testing continue to expand, interpreting the clinical significance of DNA sequence variants at scale remains a formidable…”
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Pathogenic Natural Antibodies Recognizing Annexin IV Are Required to Develop Intestinal Ischemia-Reperfusion Injury by Kulik, Liudmila, Fleming, Sherry D, Moratz, Chantal, Reuter, Jason W, Novikov, Aleksey, Chen, Kuan, Andrews, Kathy A, Markaryan, Adam, Quigg, Richard J, Silverman, Gregg J, Tsokos, George C, Holers, V. Michael

“…Intestinal ischemia-reperfusion (IR) injury is initiated when natural IgM Abs recognize neo-epitopes that are revealed on ischemic cells. The target molecules…”
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P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification by Stafford, David, Reuter, Jason, Padigepati, Samskruthi, Facio, Flavia, Korn, Michael, Johnson, Britt, Nykamp, Keith

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P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation by Reuter, Jason, Kobayashi, Yuya, Facio, Flavia, Aradhya, Swaroop, Johnson, Britt, Colavin, Alex, Nykamp, Keith

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Modeling Inducible Human Tissue Neoplasia Identifies an Extracellular Matrix Interaction Network Involved in Cancer Progression by Reuter, Jason A., Ortiz-Urda, Susana, Kretz, Markus, Garcia, John, Scholl, Florence A., Pasmooij, Anna M.G., Cassarino, David, Chang, Howard Y., Khavari, Paul A.

“…To elucidate mechanisms of cancer progression, we generated inducible human neoplasia in three-dimensionally intact epithelial tissue. Gene expression…”
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P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations by Johnson, Britt, Morales, Ana, Facio, Flavia, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Nykamp, Keith, Aradhya, Swaroop, Colavin, Alexandre

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Increased B cell deletion and significantly reduced auto-antibody titre due to premature expression of human complement receptor 2 (CR2, CD21) by Pappworth, Isabel Y., Kulik, Liudmila, Haluszczak, Catherine, Reuter, Jason W., Holers, V. Michael, Marchbank, Kevin J.

“…The involvement of complement receptor 2 (CR2) in B cell tolerance and autoimmune disease has been revealed over the past decade or so. Our previous studies…”
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Intracellular Delivery of Functional Proteins via Decoration with Transporter Peptides by Siprashvili, Zurab, Reuter, Jason A, Khavari, Paul A

“…Despite numerous attractive intracellular targets, protein therapeutics have been principally confined to the extracellular space due to the lack of a…”
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Defining fetal station by Carollo, Thomas C., Reuter, Jason M., Galan, Henry L., Jones, Richard O.

“…This study was undertaken to determine the definitions and beliefs regarding fetal station among pregnancy caregivers. Residents, nurses, and faculty at 5…”
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Use of conditionally active ras fusion proteins to study epidermal growth, differentiation, and neoplasia by Reuter, Jason A, Khavari, Paul A

“…Ras proteins are membrane-bound GTPases that play a central role in transmitting signals from the cell surface to the nucleus and affect a wide array of…”
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Abstract 13352: The Impact of Machine Learning Models in Reducing Variants of Uncertain Significance in Individuals From Underrepresented Populations Who Are Undergoing Genetic Testing for Heritable Heart Conditions by Morales, Ana, Johnson, Britt, Facio, Flavia, Ting, Yi-Lee, Vatta, Matteo, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Aradhya, Swaroop, Nykamp, Keith, Colavin, Alexandre

“…Abstract only Introduction: Many missense variants remain categorized as variants of uncertain significance (VUS) due to limited evidence. VUS are at the core…”
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The impact of machine learning models in reducing variants of uncertain significance for individuals from underrepresented populations who are undergoing testing for inborn errors of immunity by Johnson, Britt, Morales, Ana, Facio, Flavia, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Aradhya, Swaroop, Nykamp, Keith, Colavin, Alexandre

“…The classification of missense variants is challenging due to limited evidence. Consequently, many remain categorized as variants of uncertain significance…”
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CE-454029-2 THE UTILITY OF MACHINE LEARNING TOOLS IN REDUCING VUS IN ARRHYTHMIA GENES FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS COMPARED TO WELL STUDIED POPULATIONS by Morales, Ana Ana, Johnson, Britt, Vatta, Matteo, Facio, Flavia, Fresard, Laure, McKnight, Dianalee, Kobayashi, Yuya, Reuter, Jason, Aradhya, Swaroop, Nykamp, Keith, Colavin, Alexandre

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Abstract 7329: Novel MAVE models for MLH1, MSH2, and PMS2 have high accuracy by Korn, Wolfgang Michael, Padigepati, Samskruthi, Stafford, David, Facio, Flavia, Johnson, Britt, Nykamp, Keith, Reuter, Jason

“…Abstract Lynch syndrome, the most common cause of hereditary colorectal cancer, is due to pathogenic germline variants in mismatch repair (MMR) genes. Variants…”
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