Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Autor: Binsheng Gong, Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang, Carlos Pabón-Peña, Zhihong Zhang, Kevin Lai, Wanshi Cai, Jennifer S. LoCoco, Eric Lader, Todd A. Richmond, Vinay K. Mittal, Liang-Chun Liu, Donald J. Johann, James C. Willey, Pierre R. Bushel, Ying Yu, Chang Xu, Guangchun Chen, Daniel Burgess, Simon Cawley, Kristina Giorda, Nathan Haseley, Fujun Qiu, Katherine Wilkins, Hanane Arib, Claire Attwooll, Kevin Babson, Longlong Bao, Wenjun Bao, Anne Bergstrom Lucas, Hunter Best, Ambica Bhandari, Halil Bisgin, James Blackburn, Thomas M. Blomquist, Lisa Boardman, Blake Burgher, Daniel J. Butler, Chia-Jung Chang, Alka Chaubey, Tao Chen, Marco Chierici, Christopher R. Chin, Devin Close, Jeffrey Conroy, Jessica Cooley Coleman, Daniel J. Craig, Erin Crawford, Angela del Pozo, Ira W. Deveson, Daniel Duncan, Agda Karina Eterovic, Xiaohui Fan, Jonathan Foox, Cesare Furlanello, Abhisek Ghosal, Sean Glenn, Meijian Guan, Christine Haag, Xinyi Hang, Scott Happe, Brittany Hennigan, Jennifer Hipp, Huixiao Hong, Kyle Horvath, Jianhong Hu, Li-Yuan Hung, Mirna Jarosz, Jennifer Kerkhof, Benjamin Kipp, David Philip Kreil, Paweł Łabaj, Pablo Lapunzina, Peng Li, Quan-Zhen Li, Weihua Li, Zhiguang Li, Yu Liang, Shaoqing Liu, Zhichao Liu, Charles Ma, Narasimha Marella, Rubén Martín-Arenas, Dalila B. Megherbi, Qingchang Meng, Piotr A. Mieczkowski, Tom Morrison, Donna Muzny, Baitang Ning, Barbara L. Parsons, Cloud P. Paweletz, Mehdi Pirooznia, Wubin Qu, Amelia Raymond, Paul Rindler, Rebecca Ringler, Bekim Sadikovic, Andreas Scherer, Egbert Schulze, Robert Sebra, Rita Shaknovich, Qiang Shi, Tieliu Shi, Juan Carlos Silla-Castro, Melissa Smith, Mario Solís López, Ping Song, Daniel Stetson, Maya Strahl, Alan Stuart, Julianna Supplee, Philippe Szankasi, Haowen Tan, Lin-ya Tang, Yonghui Tao, Shraddha Thakkar, Danielle Thierry-Mieg, Jean Thierry-Mieg, Venkat J. Thodima, David Thomas, Boris Tichý, Nikola Tom, Elena Vallespin Garcia, Suman Verma, Kimbley Walker, Charles Wang, Junwen Wang, Yexun Wang, Zhining Wen, Valtteri Wirta, Leihong Wu, Chunlin Xiao, Wenzhong Xiao, Shibei Xu, Mary Yang, Jianming Ying, Shun H. Yip, Guangliang Zhang, Sa Zhang, Meiru Zhao, Yuanting Zheng, Xiaoyan Zhou, Christopher E. Mason, Timothy Mercer, Weida Tong, Leming Shi, Wendell Jones, Joshua Xu

Publikováno v: Genome Biology, Vol 22, Iss 1, Pp 1-23 (2021)

Abstract Background 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-l

Externí odkaz: https://doaj.org/article/c5365bb671514dddbb3d5b324f62ed28

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Novel human pathological mutations

Autor: Elena Vallespin, Carmen Ayuso, Diana Valverde

Publikováno v: Human Genetics. 119:671-682

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d45e510c3d50905e6c9fd6d811bdd8a
https://doi.org/10.1007/s00439-006-0179-0

Next generation sequencing (NGS) as a useful tool to identify clinically meaningful somatic and germinal variants in the early stages of non-small-cell lung cancer (NSCLC)

Autor: Virginia Martínez, Angela Del Pozo Mate, Prudencio Diaz Agero, Patricia Cruz, Inmaculada Ibáñez de Cáceres, Kristina Ibáñez, Julián Nevado Blanco, Javier de Castro, Oliver Higuera Gómez, Olga Pernía, Rocio Rosas Alonso, Carlos Rodríguez Antolín, Elena Vallespin Garcia

Publikováno v: Journal of Clinical Oncology. 34:e20068-e20068

e20068Background: This is an innovative project that aims to implement NGS to detect new genetic alterations in the early stages of NSCLC and their potential role as biomarkers of the tumoral evolu...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cdb417c8856b40254961d82637a891fb
https://doi.org/10.1200/jco.2016.34.15_suppl.e20068

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)

Autor: Elena, Vallespin, A, Avila-Fernandez, B, Almoguera, D, Cantalapiedra, M, Garcia-Hoyos, R, Riveiro-Alvarez, J, Aguirre-Lamban, A, Bustamante-Aragones, M J, Trujillo-Tiebas, C, Ayuso

Publikováno v: Human genetics. 127(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5493e1cc9ef06174c1a83f7113acbe1
https://pubmed.ncbi.nlm.nih.gov/20108395