Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Natalie P. Thorne"'
Publikováno v:
Revstat Statistical Journal, Vol 4, Iss 1 (2006)
The Illumina BeadArrayTM platform is a novel microarray technology based on randomly assembled arrays of beads. Each bead on the array carries copies of a single gene-specific probe with, on average, about 30 replicates of each bead type on an array.
Externí odkaz:
https://doaj.org/article/2c27ef06c58341fa969648faae0bb184
Autor:
Kevin M. Brindle, Carlos Caldas, James D. Brenton, Natalie P. Thorne, Ana-Teresa Maia, Mikko Kettunen, De-En Hu, Michelle S. Gentile, N. Gopalakrishna Iyer, Jacob G. Bundy
Metabolite profiling using 1H nuclear magnetic resonance (NMR) spectroscopy was used to investigate the metabolic changes associated with deletion of the gene for the transcriptional coactivator p300 in the human colon carcinoma cell line HCT116. Mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1499cecc1e9346b7c2b694ef6a049622
https://doi.org/10.1158/0008-5472.c.6494279.v1
https://doi.org/10.1158/0008-5472.c.6494279.v1
Autor:
Kevin M. Brindle, Carlos Caldas, James D. Brenton, Natalie P. Thorne, Ana-Teresa Maia, Mikko Kettunen, De-En Hu, Michelle S. Gentile, N. Gopalakrishna Iyer, Jacob G. Bundy
Supplementary Table 1 from Metabolic Consequences of p300 Gene Deletion in Human Colon Cancer Cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b80391dfb298e505efe4d85a7c85ec
https://doi.org/10.1158/0008-5472.22364609.v1
https://doi.org/10.1158/0008-5472.22364609.v1
Autor:
Moshe Olshansky, Douglas E. V. Pires, Michael Silk, David B. Ascher, Natalie P. Thorne, Elston N D'Souza, Carlos H M Rodrigues
Publikováno v:
Nucleic Acids Research
The identification of disease-causal variants is non-trivial. By mapping population variation from over 448,000 exome and genome sequences to over 81,000 experimental structures and homology models of the human proteome, we have calculated both regio
Autor:
Emma Tudini, James Andrews, David M. Lawrence, Sarah L. King-Smith, Naomi Baker, Leanne Baxter, John Beilby, Bruce Bennetts, Victoria Beshay, Michael Black, Tiffany F. Boughtwood, Kristian Brion, Pak Leng Cheong, Michael Christie, John Christodoulou, Belinda Chong, Kathy Cox, Mark R. Davis, Lucas Dejong, Marcel E. Dinger, Kenneth D. Doig, Evelyn Douglas, Andrew Dubowsky, Melissa Ellul, Andrew Fellowes, Katrina Fisk, Cristina Fortuno, Kathryn Friend, Renee L. Gallagher, Song Gao, Emma Hackett, Johanna Hadler, Michael Hipwell, Gladys Ho, Georgina Hollway, Amanda J. Hooper, Karin S. Kassahn, Rahul Krishnaraj, Chiyan Lau, Huong Le, Huei San Leong, Ben Lundie, Sebastian Lunke, Anthony Marty, Mary McPhillips, Lan T. Nguyen, Katia Nones, Kristen Palmer, John V. Pearson, Michael C.J. Quinn, Lesley H. Rawlings, Simon Sadedin, Louisa Sanchez, Andreas W. Schreiber, Emanouil Sigalas, Aygul Simsek, Julien Soubrier, Zornitza Stark, Bryony A. Thompson, James U, Cassandra G. Vakulin, Amanda V. Wells, Cheryl A. Wise, Rick Woods, Andrew Ziolkowski, Marie-Jo Brion, Hamish S. Scott, Natalie P. Thorne, Amanda B. Spurdle, Lauren Akesson, Richard Allcock, Katie Ashton, Damon A. Bell, Anna Brown, Michael Buckley, John R. Burnett, Linda Burrows, Alicia Byrne, Eva Chan, Corrina Cliffe, Roderick Clifton-Bligh, Susan Dooley, Miriam Fanjul Fernandez, Elizabeth Farnsworth, Thuong Ha, Denae Henry, Duncan Holds, Katherine Holman, Matilda Jackson, Sinlay Kang, Catherine Luxford, Sam McManus, Rachael Mehrtens, Cliff Meldrum, David Mossman, Sarah-Jane Pantaleo, Dean Phelan, Electra Pontikinas, Anja Ravine, Tony Roscioli, Rodney Scott, Keryn Simons, Oliver Vanwageningen
Publikováno v:
Am J Hum Genet
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommen
Autor:
Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Terence P Speed, Howard R Slater, Melanie Bahlo
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86993 (2014)
Pregnant women carry a mixture of cell-free DNA fragments from self and fetus (non-self) in their circulation. In recent years multiple independent studies have demonstrated the ability to detect fetal trisomies such as trisomy 21, the cause of Down
Externí odkaz:
https://doaj.org/article/3c626c735c7e4def8a20fd552eb767b4
Autor:
Susan M. White, Natalie P. Thorne, Sebastian Lunke, Clara Gaff, Alison Yeung, Tiong Yang Tan, Oliver James Dillon, Zornitza Stark
Publikováno v:
European Journal of Human Genetics. 26:644-651
As test costs decline, whole-exome sequencing (WES) has become increasingly used for clinical diagnosis, and now represents the primary alternative to gene panel testing for patients with a suspected genetic disorder. We sought to compare the diagnos
Autor:
Caitlin M Conboy, Christiana Spyrou, Natalie P Thorne, Elizabeth J Wade, Nuno L Barbosa-Morais, Michael D Wilson, Arindam Bhattacharjee, Richard A Young, Simon Tavaré, Jacqueline A Lees, Duncan T Odom
Publikováno v:
PLoS ONE, Vol 2, Iss 10, p e1061 (2007)
Maintaining quiescent cells in G0 phase is achieved in part through the multiprotein subunit complex known as DREAM, and in human cell lines the transcription factor E2F4 directs this complex to its cell cycle targets. We found that E2F4 binds a high
Externí odkaz:
https://doaj.org/article/e4d3652344034edf985e2c7b0855867a
Autor:
Natalie P. Thorne, Michael Milton
Publikováno v:
Bioinformatics
Summary aCLImatise is a utility for automatically generating tool definitions compatible with bioinformatics workflow languages, by parsing command-line help output. aCLImatise also has an associated database called the aCLImatise Base Camp, which pr
Autor:
Simon Sadedin, Ivan Macciocca, Tiong Yang Tan, Susan M. White, Alison Yeung, Sebastian Lunke, Natalie P. Thorne, Zornitza Stark, Clara Gaff, Paul A. James, Harriet Dashnow, Alicia Oshlack
Publikováno v:
European Journal of Human Genetics. 25:1268-1272
Rapid identification of clinically significant variants is key to the successful application of next generation sequencing technologies in clinical practice. The Melbourne Genomics Health Alliance (MGHA) variant prioritization framework employs a gen