Results 151 to 160 of about 1,170,509 (350)

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Intensive Care Medicine, 2019
PurposeWith growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to identify
Courtney E. French, I. Delon, H. Dolling, Alba Sanchis-Juan, O. Shamardina, K. Megy, S. Abbs, T. Austin, S. Bowdin, R. Branco, H. Firth, Salih Timothy J. Sofie Willian J. David L. Marta Keren J Tuna Aitman Ashford Astle Bennet Bleda Carss Chinn, Salih Tuna, T. Aitman, Sofie Ashford, Willian J. Astle, David L. Bennet, M. Bleda, K. Carss, P. Chinnery, Sri V. V. Deevi, Debra Fletcher, Daniel P. Gale, S. Gräf, Fengyuan Hu, R. James, Mary A. Kasanicki, N. Kingston, A. Koziell, H. L. Allen, E. Maher, Hugh S. Markus, Stuart Meacham, N. Morrell, C. Penkett, Irene Roberts, Alba Sanchis-Juan, Kenneth G. C. Smith, Hannah Stark, K. Stirrups, E. Turro, Hugh Watkins, C. Williamson, Tim Young, J. Bradley, W. Ouwehand, F. Raymond, Shruti Ruth Kathryn Gusztav Marion Susan Rosalie Rajiv Cr Agrawal Armstrong Beardsall Belteki Bohatschek Bro, Shruti Agrawal, R. Armstrong, Kathryn Beardsall, G. Belteki, Marion Bohatschek, S. Broster, Rosalie Campbell, R. Chaudhary, Cristine Costa, Angela D’Amore, Annie Fitzsimmons, J. Hague, Joanne Harley, S. Hoodbhoy, R. Kayani, W. Kelsall, S. Mehta, R. O’Donnell, S. O'Hare, A. Ogilvy-Stuart, Stergios Papakostas, Soo-Mi Park, Alasdair P. Parker, N. Pathan, M. Prapa, Audrienne Sammut, R. Sandford, K. Schon, Yogen Singh, Kelly Spike, A. L. T. Tavares, Doris Wari-Pepple, Hilary S. Wong, C. G. Woods, D. Rowitch, F. Raymond   +83 more
semanticscholar   +1 more source

Improving PARP inhibitor efficacy in bladder cancer without genetic BRCAness by combination with PLX51107

Molecular Oncology, EarlyView.
Clinical trials on PARP inhibitors in urothelial carcinoma (UC) showed limited efficacy and a lack of predictive biomarkers. We propose SLFN5, SLFN11, and OAS1 as UC‐specific response predictors. We suggest Talazoparib as the better PARP inhibitor for UC than Olaparib.
Jutta Schmitz, Anna L. Bartkowiak, Michael Rose, Nora Kolks, Patrick Petzsch, Vandana Solanki, Anne Stoffel, Bianca Faßbender, Leandra Lepping, Julka Volkamer, Karl Köhrer, Marc Seifert, Tokameh Mahmoudi, Tahlita C. M. Zuiverloon, Günter Niegisch, Michèle J. Hoffmann   +15 more
wiley   +1 more source

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Frontiers in Cardiovascular Medicine
BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the ...
Sit Yee Kwok, Anna Ka Yee Kwong, Julia Zhuo Shi, Connie Fong Ying Shih, Mianne Lee, Christopher C. Y. Mak, Martin Chui, Sabrina Tsao, Brian Hon Yin Chung   +8 more
doaj   +1 more source

Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing [PDF]

, 2017
Myungshin Kim, Je‐Keun Rhee, Hayoung Choi, Ahlm Kwon, Jiyeon Kim, Dong‐Gun Lee, Dong Wook Jekarl, Seungok Lee, Yonggoo Kim, Tae‐Min Kim   +9 more
openalex   +1 more source

Archon Genomics X PRIZE Validation Protocol [PDF]

, 2011
This document is a collective assembly of techniques designed to test the quality and accuracy of 100 whole human genome sequences resulting from the $10 Million Archon Genomics X PRIZE (AGXP) competition.
Edison Liu, Granger Sutton, Larry Kedes, Victor Jongeneel   +3 more
core   +1 more source

Effect of chemotherapy on passenger mutations in metastatic colorectal cancer

Molecular Oncology, EarlyView.
Changes in passenger mutation load and predicted immunotherapy response after chemotherapy treatment. Tumor cells rich with passenger mutations have increased sensitivity to chemotherapy. Correlation of passenger mutations with neoantigen load suggests highly mutated clones promote a more effective response to immunotherapy, and therefore, first‐line ...
Marium T. Siddiqui, Matthew A. Cottam, Muhammad Bilal Mirza, Keeli B. Lewis, Kristen K. Ciombor, Mary Kay Washington, Kamran Idrees   +6 more
wiley   +1 more source

Enriched whole genome sequencing identified compensatory mutations in the RNA polymerase gene of rifampicin-resistant Mycobacterium leprae strains

Infection and Drug Resistance, 2018
Mallika Lavania,1 Itu Singh,1 Ravindra P Turankar,1 Anuj Kumar Gupta,2 Madhvi Ahuja,1 Vinay Pathak,1 Utpal Sengupta1 1Stanley Browne Laboratory, The Leprosy Mission Trust India, TLM Community Hospital Nand Nagari, 2Agilent Technologies India Pvt Ltd ...
Lavania M, Singh I, Turankar RP, Gupta AK, Ahuja M, Pathak V, Sengupta U   +6 more
doaj  

Molecular characterisation of human penile carcinoma and generation of paired epithelial primary cell lines

Molecular Oncology, EarlyView.
Generation of two normal and tumour (cancerous) paired human cell lines using an established tissue culture technique and their characterisation is described. Cell lines were characterised at cellular, protein, chromosome and gene expression levels and for HPV status.
Simon Broad, Mahmood Hachim, Tom Bertin, Karolina Penderecka, Rifat Hamoudi, Saif Khan, Rui Henrique, Natalie Bergmoser, Manit Arya, Kalle Sipila, Matteo Vietri Rudan, Asif Muneer, Aamir Ahmed   +12 more
wiley   +1 more source

Experimental Evolution of Enhanced Growth by Bacillus subtilis at Low Atmospheric Pressure: Genomic Changes Revealed by Whole-Genome Sequencing [PDF]

, 2015
Samantha M. Waters, Daniel R. Zeigler, Wayne L. Nicholson   +2 more
openalex   +1 more source

Sequencing the potato genome: outline and first results to come from the elucidation of the sequence of the world's third most important food crop [PDF]

Potato is a member of the Solanaceae, a plant family that includes several other economically important species, such as tomato, eggplant, petunia, tobacco and pepper.
Bachem, C.W.B., Boer, J.M., de, Bryan, G.J., Chakrabati, S.K., Feingold, S., Gromadka, R., Ham, R.C.H.J., van, Huang, S., Jacobs, J.M.E., Kuznetsov, Boris, Melo, P., de, Milbourne, D., Orjeda, G., Sagredo, Boris, Tang, X., Visser, R.G.F.   +15 more
core   +2 more sources