Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Simon Dear"'
Autor:
Richard Mott, Richard Durbin, LaDeana W. Hillier, Gabor T. Marth, Jean Thierry-Mieg, Simon Dear
Publikováno v:
Genome Research. 8:260-267
Large-scale genomic sequencing requires a software infrastructure to support and integrate applications that are not directly compatible. We describe a suite of software tools built around the Common Assembly Format (CAF), a comprehensive representat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d75df1cb314cbbf1c129d7867ed64f97
https://doi.org/10.1101/gr.8.3.260
https://doi.org/10.1101/gr.8.3.260
Publikováno v:
Human Mutation. 3:141-151
Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an extensive mutation search. The whole of the coding region
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea02818f2f325c712fd4ee88181c850d
https://doi.org/10.1002/humu.1380030209
https://doi.org/10.1002/humu.1380030209
Autor:
Simon Dear
Publikováno v:
Briefings in Bioinformatics. 2:405-407
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4211f559478abe6e45514c5222935308
https://doi.org/10.1093/bib/2.4.405
https://doi.org/10.1093/bib/2.4.405
Publikováno v:
Genome research. 8(9)
Increased automation in the Human Genome Project (Watson 1990) continues to be critical in meeting projected goals and minimizing costs. Whereas technology development and hardware improvements are responsible for many gains, informatics issues also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62277af6af8fbc154d514042e0922e9b
https://pubmed.ncbi.nlm.nih.gov/9750196
https://pubmed.ncbi.nlm.nih.gov/9750196
Autor:
Simon Dear, Richard Durbin
Publikováno v:
Genome research. 8(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9556d7ed554c75cc07a3bce633efaa43
https://pubmed.ncbi.nlm.nih.gov/9521917
https://pubmed.ncbi.nlm.nih.gov/9521917
Autor:
Simon Dear
Publikováno v:
Guide to Human Genome Computing (Second Edition)
The accurate determination of the sequence of nucleotide bases in a genomic region involves many steps, the last of which is DNA sequencing. Current sequencing methods rely on the electrophoretic separation of their reaction products, the resolution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a94f286af233486a9b80ba8196bb01ef
https://doi.org/10.1016/b978-012102051-4/50009-x
https://doi.org/10.1016/b978-012102051-4/50009-x
Autor:
Martin J. Bishop, Stephen P. Bryant, Duncan Davidson, Simon Dear, Christophe Dubreuil, Ian Dunham, Ramnath Elaswarapu, Simon Gregory, Anders Krogh, Linda McCarthy, Luciano Milanesi, Michael Rhodes, Martin Ringwald, Igor B. Rogozin, Pak Sham, Guy St C. Slater, Carol Soderlund, Lincoln D. Stein, Jinghua Zhao
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ec7005779fc233ae7c280197e031a55
https://doi.org/10.1016/b978-012102051-4/50000-3
https://doi.org/10.1016/b978-012102051-4/50000-3
Autor:
Jeremy Peter Cheadle, Graham R. Taylor, A. Linda Meredith, Ann Curtis, Joanne Whittaker, Abid Sharif, Helen Middleton-Price, Andrea Haworth, Geraldine Malone, Annette Gilfillan, Ed Mayall, Andrew L. Wallace, Cathie McMahon, David E. Barton, Anneke Seller, Margaret Connarty, Ros Pinkett, Martin Giles, Anne Gardner, George W. Lanyon, Mark Davidson, Gareth S. Cross, David J. H. Brock, I. Hilary Sawyer, Susan Price, Nick Dennis, G. Scott Higgins, Victoria Lindley, Colin A. Graham, Ann Dalton, Robert C. McMahon, Mayada Tassabehji, Davinder S. Plaha, Alison J. M. Hill, Rohan Taylor, Ann Harris, Simon Dear, Zosia Miedzybrodzka, Rachel Butler, Martin Schwarz
Publikováno v:
Human mutation. 6(4)
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have been analysed, demonstrating 56 different mutations so far observed and accounting for 86%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2207e039b0b4d3b3ba5b793ff9073d7f
https://pubmed.ncbi.nlm.nih.gov/8680406
https://pubmed.ncbi.nlm.nih.gov/8680406
Autor:
Simon Dear, Rodger Staden
Publikováno v:
DNA sequence : the journal of DNA sequencing and mapping. 3(2)
We describe a set of programs for creating and using indexes for the distributed forms of the major sequence libraries. The indexes conform to the specification of those distributed on cd-rom by the EMBL sequence library. The programs create entry na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0a8f20ef9af04ce24d6c1a1fa6d674
https://pubmed.ncbi.nlm.nih.gov/1457819
https://pubmed.ncbi.nlm.nih.gov/1457819
Autor:
Rodger Staden, Simon Dear
Publikováno v:
DNA sequence : the journal of DNA sequencing and mapping. 3(2)
There are now a number of machines for determining DNA sequences. These devices are currently of two types: those such as the Applied Biosystems 373A and the Pharmacia A.L.F. which interpret the sequences of samples as they run on gels within the mac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32da3f0460e54fb23455fcb42d97bcc5
https://pubmed.ncbi.nlm.nih.gov/1457811
https://pubmed.ncbi.nlm.nih.gov/1457811