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Przejdź do strony domowej biblioteki Pedagogiczna Biblioteka Wojewódzka im. Komisji Edukacji Narodowej w Lublinie Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaPedagogiczna Biblioteka Wojewódzka im. Komisji Edukacji Narodowej w Lublinie
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Wyświetlanie 1-10 z 15
Tytuł:
Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations
Autorzy:
Pabón-Peña, Carlos
Scherer, Andreas
Łabaj, Paweł
Mason, Christopher E.
Lucas, Anne Bergstrom
Li, Jianying
Gong, Binsheng
Johann, Donald J.
Richmond, Todd A.
Mozsary, Christopher
Butler, Daniel
Ebrahim Sahraeian, Sayed Mohammad
Jones, Wendell
Maestro, Roberta
Xu, Joshua
Willey, James C.
Bushel, Pierre R.
Li, Dan
Pan, Bohu
Kusko, Rebecca
Novoradovskaya, Natalia
Kreil, David P.
Chen, Guangchun
Foox, Jonathan
Tilgner, Hagen U.
Opis:
In precision medicine, DNA-based assays are currently necessary but not always sufficient for predicting therapeutic efficacy of cancer drugs based on the mutational findings in a patient’s tumor specimen. Most drugs target proteins, but it is challenging and not yet cost-effective to perform high-throughput proteomics profiling, including mutational analysis, on cancer specimens. RNA may be an effective mediator for bridging the "DNA to protein divide" and provide more clarity and therapeutic predictability for precision oncology. While RNA sequencing (RNA-seq) has been increasingly used alongside DNA cancer mutation screening panels to assess the impact of variants on gene transcript expression and splicing, comprehensive evaluations of RNA panels and the integration of expressed mutation data analytics to supplement DNA panels are still limited. In this study, we conducted targeted RNA-seq on a reference sample set for expressed variant detection to explore its potential capability to complement DNA variant results or detect variants independently. The results indicated that, with a carefully controlled false positive rate ensuring high accuracy, RNA-seq uniquely identified variants with significant pathological relevance that were missed by DNA-seq, demonstrating its potential to uncover clinically actionable mutations. On the other hand, while some variants were detected by both approaches, others were missed by one or the other, reflecting either the nature of these variants or limitations of the bioinformatics tools used. Variants missed by RNA-seq are often not expressed or expressed at very low levels, suggesting they may be of lower clinical relevance. Incorporating RNA-seq into clinical biomarker panels will ultimately advance precision medicine and improve patient outcomes by improving the strength and reliability of somatic mutation findings for clinical diagnosis, prognosis and prediction of therapeutic efficacy.
Dostawca treści:
Repozytorium Uniwersytetu Jagiellońskiego
Artykuł
Tytuł:
The SEQC2 epigenomics quality control (EpiQC) study : comprehensive characterization of epigenetic methods, reproducibility, and quantification
Autorzy:
Lundmark, Anders
Padmanabhan, Karthik Ramaswamy
Muszyńska, Agata
Deng, Youping
Langhorst, Bradley W.
Cavalcante, Raymond
Gong, Ting
Rosas, Rocio
Scherer, Andreas
Davis, Justin Wade
Ponnaluri, V. K. Chaithanya
Bruinsma, Stephen
Mozsary, Christopher
Suzuki, Masako
Li, Jing
Megherbi, Dalila B.
Łabaj, Paweł
Lalancette, Claudia
Yang, Xiaopeng
Guo, Shang
Liao, Will
Golda, Gosia
Alonso, Alicia
Nasu, Masaki
Sheridan, Caroline
Wos, Frank
Xiao, Wenming
Axelsson, Tomas
Wang, Charles
Yang, Zhaowei
Melnick, Ari
Ibanez de Caceres, Inmaculada
Ishii, Jennifer
Liljedahl, Ulrika
Rodriguez-Antolin, Carlos
Tong, Weida
Franke, Vedran
Campbell, Matthew A.
Hong, Huixiao
Foox, Jonathan
Chen, Zhong
Ning, Baitang
Lacey, Michelle
Butler, Daniel
Lent, Samantha
Raine, Amanda
Nordlund, Jessica
Blume, Alexander
Akalin, Altuna
Mason, Christopher E.
Williams, Louise
Menor, Mark
Wang, Yunliang
Wang, Hongwei
Gurvitch, Justin
Xu, Joshua
Greally, John M.
Opis:
Cytosine modifications in DNA such as 5-methylcytosine (5mC) underlie a broad range of developmental processes, maintain cellular lineage specification, and can define or stratify types of cancer and other diseases. However, the wide variety of approaches available to interrogate these modifications has created a need for harmonized materials, methods, and rigorous benchmarking to improve genome-wide methylome sequencing applications in clinical and basic research. Here, we present a multi-platform assessment and cross-validated resource for epigenetics research from the FDA’s Epigenomics Quality Control Group.
Dostawca treści:
Repozytorium Uniwersytetu Jagiellońskiego
Artykuł
Tytuł:
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
Autorzy:
Ma, Charles
Supplee, Julianna
Zhang, Sa
Kreil, David Philip
Blomquist, Thomas M.
Tom, Nikola
Xiao, Chunlin
Li, Weihua
LoCoco, Jennifer S.
Jones, Wendell
Megherbi, Dalila B.
Hipp, Jennifer
Horvath, Kyle
Strahl, Maya
Marella, Narasimha
Silla-Castro, Juan Carlos
López, Mario Solís
Qu, Wubin
Liang, Yu
Verma, Suman
Eterovic, Agda Karina
Pirooznia, Mehdi
Pabón-Peña, Carlos
Ghosal, Abhisek
Craig, Daniel J.
Chen, Tao
Hennigan, Brittany
Deveson, Ira W.
Qiu, Fujun
Chang, Chia-Jung
del Pozo, Angela
Tang, Lin-ya
Yip, Shun H.
Duncan, Daniel
Hu, Jianhong
Stetson, Daniel
Shi, Tieliu
Li, Quan-Zhen
Shaknovich, Rita
Chin, Christopher R.
Richmond, Todd A.
Willey, James C.
Bhandari, Ambica
Sebra, Robert
Zhang, Guangliang
Burgess, Daniel
Tichý, Boris
Jarosz, Mirna
Liu, Liang-Chun
Fan, Xiaohui
Szankasi, Philippe
Bushel, Pierre R.
Haseley, Nathan
Gong, Binsheng
Scherer, Andreas
Glenn, Sean
Crawford, Erin
Hong, Huixiao
Martín-Arenas, Rubén
Hung, Li-Yuan
Wirta, Valtteri
Chaubey, Alka
Bao, Wenjun
Li, Zhiguang
Shi, Leming
Zhou, Xiaoyan
Kerkhof, Jennifer
Lader, Eric
Garcia, Elena Vallespin
Chierici, Marco
Xu, Shibei
Li, Dan
Xu, Joshua
Liu, Zhichao
Morrison, Tom
Walker, Kimbley
Tan, Haowen
Mason, Christopher E.
Johann, Donald J.
Łabaj, Paweł
Butler, Daniel J.
Wang, Junwen
Best, Hunter
Ning, Baitang
Parsons, Barbara L.
Arib, Hanane
Thierry-Mieg, Danielle
Lapunzina, Pablo
Blackburn, James
Tao, Yonghui
Wang, Charles
Thomas, David
Zhao, Meiru
Happe, Scott
Cai, Wanshi
Zheng, Yuanting
Stuart, Alan
Shi, Qiang
Sadikovic, Bekim
Giorda, Kristina
Boardman, Lisa
Wen, Zhining
Kusko, Rebecca
Xu, Chang
Raymond, Amelia
Chen, Guangchun
Mittal, Vinay K.
Hang, Xinyi
Meng, Qingchang
Zhang, Yifan
Li, Peng
Wang, Yexun
Thakkar, Shraddha
Thodima, Venkat J.
Wilkins, Katherine
Tong, Weida
Mieczkowski, Piotr A.
Lucas, Anne Bergstrom
Cooley Coleman, Jessica
Liu, Shaoqing
Ringler, Rebecca
Lai, Kevin
Schulze, Egbert
Yu, Ying
Mercer, Timothy
Muzny, Donna
Guan, Meijian
Yang, Mary
Rindler, Paul
Song, Ping
Paweletz, Cloud P.
Wu, Leihong
Bao, Longlong
Kipp, Benjamin
Attwooll, Claire
Wang, Shangzi
Haag, Christine
Smith, Melissa
Thierry-Mieg, Jean
Furlanello, Cesare
Bisgin, Halil
Ying, Jianming
Novoradovskaya, Natalia
Zhang, Zhihong
Babson, Kevin
Close, Devin
Conroy, Jeffrey
Burgher, Blake
Xiao, Wenzhong
Cawley, Simon
Foox, Jonathan
Opis:
Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-led SEquence Quality Control project phase2 (SEQC2) effort, we perform a cross-platform multi-lab evaluation of eight Pan-Cancer panels to assess best practices for oncopanel sequencing.
Dostawca treści:
Repozytorium Uniwersytetu Jagiellońskiego
Artykuł
Tytuł:
Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis : a Longitudinal Study of the International Pediatric Peritoneal Dialysis Network
Autorzy:
Rees, Lesley
Xu, Hong
Serdaroglu, Erkin
Warady, Bradley A.
Gonzalez Celedon, Claudia
Vitkevic, Renata
Wong, William
Wong, Cynthia
Müller, Dominik
Grenda, Ryszard
Borzych-Dużałka, Dagmara
Sartz, Lisa
Schaefer, Franz
Rébori, Anabella
Flynn, Joseph
Hooman, Nakysa
Ranchin, Bruno
Drożdż, Dorota
Szabo, Attila J.
Zaritsky, Joshua
Eid, Loai
Sander, Anja
Testa, Sara
Fila, Marc
Antonio, Zenaida L.
Pottoore, Stephen J.
Hölttä, Tuula
Patel, Hiren
Yildirim, Zeynep Yuruk
Benner, Laura
Sever, Lale
Vondrak, Karel
Basu, Biswanath
Dusunsel, Ruhan
Opis:
While children approaching end-stage kidney disease (ESKD) are considered at risk of uremic anorexia and underweight they are also exposed to the global obesity epidemic. We sought to investigate the variation of nutritional status in children undergoing chronic peritoneal dialysis (CPD) around the globe. The distribution and course of body mass index (BMI) standard deviation score over time was examined prospectively in 1001 children and adolescents from 35 countries starting CPD who were followed in the International Pediatric PD Network (IPPN) Registry. The overall prevalence of underweight, and overweight/obesity at start of CPD was 8.9% and 19.7%, respectively. Underweight was most prevalent in South and Southeast Asia (20%), Central Europe (16.7%) and Turkey (15.2%), whereas overweight and obesity were most common in the Middle East (40%) and the US (33%). BMI SDS at PD initiation was associated positively with current eGFR and gastrostomy feeding prior to PD start. Over the course of PD BMI SDS tended to increase on CPD in underweight and normal weight children, whereas it decreased in initially overweight patients. In infancy, mortality risk was amplified by obesity, whereas in older children mortality was markedly increased in association with underweight. Both underweight and overweight are prevalent in pediatric ESKD, with the prevalence varying across the globe. Late dialysis start is associated with underweight, while enteral feeding can lead to obesity. Nutritional abnormalities tend to attenuate with time on dialysis. Mortality risk appears increased with obesity in infants and with underweight in older children.
Dostawca treści:
Repozytorium Uniwersytetu Jagiellońskiego
Artykuł
Wyświetlanie 1-10 z 15

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