Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Stephanie U Greer"'
Autor:
Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-11 (2023)
Abstract Background Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity to make definitive mo
Externí odkaz:
https://doaj.org/article/e6f7c74520a941a0857be3d702c02e98
Autor:
Stephanie U. Greer, Jiamin Chen, Margret H. Ogmundsdottir, Carlos Ayala, Billy T. Lau, Richard Glenn C. Delacruz, Imelda T. Sandoval, Sigrun Kristjansdottir, David A. Jones, Derrick S. Haslem, Robin Romero, Gail Fulde, John M. Bell, Jon G. Jonasson, Eirikur Steingrimsson, Hanlee P. Ji, Lincoln D. Nadauld
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Autophagy is a housekeeping mechanism tasked with eliminating misfolded proteins and damaged organelles to maintain cellular homeostasis. Autophagy deficiency results in increased oxidative stress, DNA damage and chronic cellular injury. Amo
Externí odkaz:
https://doaj.org/article/07556fe7ab554218a24d01d6e4b51299
Autor:
GiWon Shin, Stephanie U. Greer, Erik Hopmans, Susan M. Grimes, HoJoon Lee, Lan Zhao, Laura Miotke, Carlos Suarez, Alison F. Almeda, Sigurdis Haraldsdottir, Hanlee P. Ji
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)
Abstract We developed a sensitive sequencing approach that simultaneously profiles microsatellite instability, chromosomal instability, and subclonal structure in cancer. We assessed diverse repeat motifs across 225 microsatellites on colorectal carc
Externí odkaz:
https://doaj.org/article/f712076aec7c479ebafdae1d3b8bdf16
Publikováno v:
Evolution. 77:454-466
Evolution of self-fertilization may be initiated by a historical population bottleneck, which should diagnostically reduce lineage-wide genetic variation. However, selfing can also strongly reduce genetic variation after it evolves. Distinguishing pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8abd440e6130410ee93ab0db0bbcd444
https://doi.org/10.1093/evolut/qpac047
https://doi.org/10.1093/evolut/qpac047
Autor:
Stephanie U. Greer, Lincoln D. Nadauld, Billy T. Lau, Jiamin Chen, Christina Wood-Bouwens, James M. Ford, Calvin J. Kuo, Hanlee P. Ji
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-17 (2017)
Abstract Background Genome rearrangements are critical oncogenic driver events in many malignancies. However, the identification and resolution of the structure of cancer genomic rearrangements remain challenging even with whole genome sequencing. Me
Externí odkaz:
https://doaj.org/article/89835a2422ff46e7b32fc7f285b9648c
Autor:
Dmitri S. Pavlichin, Susan M. Grimes, Hong-pyo Lee, Hanlee P. Ji, Tsachy Weissman, Stephanie U. Greer
Publikováno v:
Nucleic Acids Research. 50:W448-W453
K-mers are short DNA sequences that are used for genome sequence analysis. Applications that use k-mers include genome assembly and alignment. However, the wider bioinformatic use of these short sequences has challenges related to the massive scale o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::834f9a661b87884a8b1a3feaa0c08244
https://doi.org/10.1093/nar/gkac266
https://doi.org/10.1093/nar/gkac266
Autor:
Hanlee P. Ji, Lan Zhao, Susan M. Grimes, Stephanie U. Greer, Carlos Suárez, Erik S. Hopmans, Alison Almeda, GiWon Shin, Hojoon Lee, Laura Miotke, Sigurdis Haraldsdottir
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)
Genome Medicine
Genome Medicine
Colorectal carcinomas (CRCs) which have lost DNA mismatch repair display hypermutability evident in a molecular phenotype called microsatellite instability (MSI). These mismatch repair deficient tumors are thought to lack widespread genomic instabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b68d90ab0c2a44b6b7ab53ee66ed201
https://doaj.org/article/f712076aec7c479ebafdae1d3b8bdf16
https://doaj.org/article/f712076aec7c479ebafdae1d3b8bdf16
Autor:
Alison F Almeda, Sue Grimes, HoJoon Lee, Stephanie U Greer, GiWon Shin, Madeline McNamara, Anna C Hooker, Maya Arce, Matthew Kubit, Marie Schauer, Paul Van Hummelen, Cindy Ma, Meredith Mills, Robert J Huang, Joo Ha Hwang, Manuel R Amieva, Summer Han, James M. Ford, Hanlee P. Ji
BackgroundGastric cancer (GC) is a leading cause of global cancer morbidity and mortality. Developing information systems which integrate clinical and genomic data may accelerate discoveries to improve cancer prevention, detection, and treatment. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::027f35db7557f541e0de06d2c42236d4
https://doi.org/10.1101/2022.03.10.22271914
https://doi.org/10.1101/2022.03.10.22271914
Autor:
Stephanie U. Greer, Jiamin Chen, Margret H. Ogmundsdottir, Carlos Ayala, Billy T. Lau, Richard Glenn C. Delacruz, Imelda T. Sandoval, Sigrun Kristjansdottir, David A. Jones, Derrick S. Haslem, Robin Romero, Gail Fulde, John M. Bell, Jon G. Jonasson, Eirikur Steingrimsson, Hanlee P. Ji, Lincoln D. Nadauld
Publikováno v:
Scientific reports. 12(1)
Autophagy is a housekeeping mechanism tasked with eliminating misfolded proteins and damaged organelles to maintain cellular homeostasis. Autophagy deficiency results in increased oxidative stress, DNA damage and chronic cellular injury. Among the co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aedf9b720646e2f12d00fb5113a59b7
https://pubmed.ncbi.nlm.nih.gov/35725745
https://pubmed.ncbi.nlm.nih.gov/35725745
Autor:
Karen Pereira, Didier Lardinois, Tanja Dietsche, David C Müller, Darius Juskevicius, Christian Ruiz, Lukas Bubendorf, Noemi Andor, Arthur Krause, Thomas Lorber, Valeria Perrina, Spasenija Savic Prince, Michael T. Barrett, Stephanie U. Greer
Publikováno v:
The Journal of Pathology. 247:199-213
Variable tumor cellularity can limit sensitivity and precision in comparative genomics because differences in tumor content can result in misclassifying truncal mutations as region-specific private mutations in stroma-rich regions, especially when st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ac2c9f246199a5da2839dd03cfb1cd6
https://doi.org/10.1002/path.5183
https://doi.org/10.1002/path.5183