Search Results - "Elliott, Aaron"

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing by Mu, Wenbo, Lu, Hsiao-Mei, Chen, Jefferey, Li, Shuwei, Elliott, Aaron M

“…Next-generation sequencing (NGS) has rapidly replaced Sanger sequencing as the method of choice for diagnostic gene-panel testing. For hereditary-cancer…”
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The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay by Chong, Hansook Kim, Wang, Tao, Lu, Hsiao-Mei, Seidler, Sara, Lu, Hong, Keiles, Steven, Chao, Elizabeth C, Stuenkel, A J, Li, Xiang, Elliott, Aaron M

“…Breast cancer is the most commonly diagnosed cancer in women, with 10% of disease attributed to hereditary factors. Although BRCA1 and BRCA2 account for a high…”
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Somatic TP53 variants frequently confound germ-line testing results by Weitzel, Jeffrey N, Chao, Elizabeth C, Nehoray, Bita, Van Tongeren, Lily R, LaDuca, Holly, Blazer, Kathleen R, Slavin, Thomas, FACMG, D A B M D, Pesaran, Tina, Rybak, Christina, Solomon, Ilana, Niell-Swiller, Mariana, Dolinsky, Jill S, Castillo, Danielle, Elliott, Aaron, Gau, Chia-Ling, Speare, Virginia, Jasperson, Kory

“…Purpose Blood/saliva DNA is thought to represent the germ line in genetic cancer-risk assessment. Cases with pathogenic TP53 variants detected by multigene…”
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A Bayesian framework for efficient and accurate variant prediction by Qian, Dajun, Li, Shuwei, Tian, Yuan, Clifford, Jacob W, Sarver, Brice A J, Pesaran, Tina, Gau, Chia-Ling, Elliott, Aaron M, Lu, Hsiao-Mei, Black, Mary Helen

“…There is a growing need to develop variant prediction tools capable of assessing a wide spectrum of evidence. We present a Bayesian framework that involves…”
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Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection by Gray, Phillip N, Dunlop, Charles L M, Elliott, Aaron M

“…The molecular characterization of tumors using next generation sequencing (NGS) is an emerging diagnostic tool that is quickly becoming an integral part of…”
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ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome by Elliott, Aaron M, Al-Hajj, Muhammad A

“…Despite their initial effectiveness in the treatment of melanoma, chemotherapeutic agents are ultimately futile against this most aggressive form of skin…”
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing by Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei

“…Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its…”
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Reasons, Dispositions, and Value by Elliott, Aaron P

“…In this paper, I will discuss an objection to Buck-Passing (BP) accounts of value, such as Reasons Fundamentalism. Buck-Passing views take value to be…”
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Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing by Elliott, Aaron M, Radecki, Joy, Moghis, Bellal, Li, Xiang, Kammesheidt, Anja

“…Cystic fibrosis (CF) is one of the most frequently diagnosed autosomal-recessive diseases in the Caucasian population. For general-population CF carrier…”
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Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia by Hernandez, Felicia, Huether, Robert, Carter, Lester, Johnston, Tami, Thompson, Jennifer, Gossage, James R, Chao, Elizabeth, Elliott, Aaron M

“…Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG , ACVRL1 and SMAD4 , which function in…”
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TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome by Gray, Phillip N, Tsai, Pei, Chen, Daniel, Wu, Sitao, Hoo, Jayne, Mu, Wenbo, Li, Bing, Vuong, Huy, Lu, Hsiao-Mei, Batth, Navanjot, Willett, Sara, Uyeda, Lisa, Shah, Swati, Gau, Chia-Ling, Umali, Monalyn, Espenschied, Carin, Janicek, Mike, Brown, Sandra, Margileth, David, Dobrea, Lavinia, Wagman, Lawrence, Rana, Huma, Hall, Michael J, Ross, Theodora, Terdiman, Jonathan, Cullinane, Carey, Ries, Savita, Totten, Ellen, Elliott, Aaron M

“…The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting…”
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Evidence of two deeply divergent co-existing mitochondrial genomes in the Tuatara reveals an extremely complex genomic organization by Macey, J. Robert, Pabinger, Stephan, Barbieri, Charles G., Buring, Ella S., Gonzalez, Vanessa L., Mulcahy, Daniel G., DeMeo, Dustin P., Urban, Lara, Hime, Paul M., Prost, Stefan, Elliott, Aaron N., Gemmell, Neil J.

“…Animal mitochondrial genomic polymorphism occurs as low-level mitochondrial heteroplasmy and deeply divergent co-existing molecules. The latter is rare, known…”
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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay by Farber-Katz, Suzette, Hsuan, Vickie, Wu, Sitao, Landrith, Tyler, Vuong, Huy, Xu, Dong, Li, Bing, Hoo, Jayne, Lam, Stephanie, Nashed, Sarah, Toppmeyer, Deborah, Gray, Phillip, Haynes, Ginger, Lu, Hsiao-Mei, Elliott, Aaron, Tippin Davis, Brigette, Karam, Rachid

“…Clinical genetic testing for hereditary breast and ovarian cancer (HBOC) is becoming widespread. However, the interpretation of variants of unknown…”
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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer by Horton, Carolyn, Cass, Ashley, Conner, Blair R., Hoang, Lily, Zimmermann, Heather, Abualkheir, Nelly, Burks, David, Qian, Dajun, Molparia, Bhuvan, Vuong, Huy, LaDuca, Holly, Grzybowski, Jessica, Durda, Kate, Pilarski, Robert, Profato, Jessica, Clayback, Katherine, Mahoney, Martin, Schroeder, Courtney, Torres-Martinez, Wilfredo, Elliott, Aaron, Chao, Elizabeth C., Karam, Rachid

“…DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification…”
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High Resolution Array-CGH Characterization of Human Stem Cells Using a Stem Cell Focused Microarray by Elliott, Aaron M, Hohenstein Elliott, Kristi A, Kammesheidt, Anja

“…Human embryonic and induced pluripotent stem cells (ESCs, iPSCs) that are cultured for an extended period of time are susceptible to genomic instability…”
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Examination of IGF2 and H19 Loss of Imprinting in Bladder Cancer by BYUN, Hyang-Min, WONG, Hui-Lee, AARON BIRNSTEIN, Elliott, WOLFF, Erika M, GANGNING LIANG, YANG, Allen S

“…Loss of imprinting (LOI) is a common epigenetic event in cancer and may serve as an early biomarker in some cancers. To obtain a better understanding of LOI,…”
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Identifying genes differentially expressed between PGCs and ES cells reveals a role for CREB-binding protein in germ cell survival by Elliott, Aaron M., de Miguel, Maria P., Rebel, Vivienne I., Donovan, Peter J.

“…Primordial germ cells (PGCs) are the embryonic precursors of the adult gametes. Although restricted in developmental potency, PGCs express many of the same…”
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Embryonic germ cells: when germ cells become stem cells by Kerr, Candace L, Gearhart, John D, Elliott, Aaron M, Donovan, Peter J

“…Embryonic germ cells (EGCs) are pluripotent stem cells derived from primordial germ cells (PGCs). PGCs are progenitors of adult gametes, which diverge from the…”
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Array-comparative genomic hybridization characterization of human pluripotent stem cells by Elliott, Aaron M, Elliott, Kristi A Hohenstein, Kammesheidt, Anja

“…During culture adaptation, human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) tend to acquire chromosomal aberrations. Generally,…”
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High-Resolution Genomic Profiling of Chromosomal Abnormalities in Human Stem Cells Using the 135 K StemArray by Elliott, Aaron M., Kammesheidt, Anja, Hohenstein Elliott, Kristi A.

“…Culturing stem cells for an extended period of time can lead to acquired chromosomal aberrations. Determining the copy number variant (CNV) profile of stem…”
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