Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Michael Ferlaino"'
Autor:
Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, David N. Cooper, Tom R. Gaunt, Colin Campbell
Publikováno v:
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations associated
Externí odkaz:
https://doaj.org/article/09335655529e4701b1d10904f632ee00
Autor:
Christoffer Nellåker, Fowzan S. Alkuraya, Gareth Baynam, Raphael A. Bernier, Francois P.J. Bernier, Vanessa Boulanger, Michael Brudno, Han G. Brunner, Jill Clayton-Smith, Benjamin Cogné, Hugh J.S. Dawkins, Bert B.A. deVries, Sofia Douzgou, Tracy Dudding-Byth, Evan E. Eichler, Michael Ferlaino, Karen Fieggen, Helen V. Firth, David R. FitzPatrick, Dylan Gration, Tudor Groza, Melissa Haendel, Nina Hallowell, Ada Hamosh, Jayne Hehir-Kwa, Marc-Phillip Hitz, Mark Hughes, Usha Kini, Tjitske Kleefstra, R Frank Kooy, Peter Krawitz, Sébastien Küry, Melissa Lees, Gholson J. Lyon, Stanislas Lyonnet, Julien L. Marcadier, Stephen Meyn, Veronika Moslerová, Juan M. Politei, Cathryn C. Poulton, F Lucy Raymond, Margot R.F. Reijnders, Peter N. Robinson, Corrado Romano, Catherine M. Rose, David C.G. Sainsbury, Lyn Schofield, Vernon R. Sutton, Marek Turnovec, Anke Van Dijck, Hilde Van Esch, Andrew O.M. Wilkie, The Minerva Consortium
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
The clinical utility of computational phenotyping for both genetic and rare diseases is increasingly appreciated; however, its true potential is yet to be fully realized. Alongside the growing clinical and research availability of sequencing technolo
Externí odkaz:
https://doaj.org/article/458e4c05c18146f2b21c7405c0d99685
Autor:
Hashem A. Shihab, David Neil Cooper, Colin Campbell, Mark F. Rogers, Michael Ferlaino, Matthew Mort, Tom R. Gaunt
Publikováno v:
Ferlaino, M, Rogers, M F, Shihab, H A, Mort, M, Cooper, D N, Gaunt, T R & Campbell, C 2017, ' An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome ', BMC Bioinformatics, vol. 18, no. 1, 442 . https://doi.org/10.1186/s12859-017-1862-y
BMC bioinformatics
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-8 (2017)
BMC bioinformatics
BMC Bioinformatics, Vol 18, Iss 1, Pp 1-8 (2017)
Background: Small insertions and deletions (indels) have a significant influence in human disease and, in terms of\ud frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations\ud associated wi
Publikováno v:
Studies in health technology and informatics. 235
Sequencing data will become widely available in clinical practice within the near future. Uptake of sequence data is currently being stimulated within the UK through the government-funded 100,000 genomes project (Genomics England), with many similar
Publikováno v:
BMC Bioinformatics
Shihab, H, Rogers, M, Ferlaino, M, Campbell, C & Gaunt, T 2017, ' GTB – An Online Genome Tolerance Browser ', BMC Bioinformatics, vol. 18, no. 20 . https://doi.org/10.1186/s12859-016-1436-4
Shihab, H, Rogers, M, Ferlaino, M, Campbell, C & Gaunt, T 2017, ' GTB – An Online Genome Tolerance Browser ', BMC Bioinformatics, vol. 18, no. 20 . https://doi.org/10.1186/s12859-016-1436-4
Background Accurate methods capable of predicting the impact of single nucleotide variants (SNVs) are assuming ever increasing importance. There exists a plethora of in silico algorithms designed to help identify and prioritize SNVs across the human
We consider conformal field theories in 1+1 dimensions with W-algebra symmetries, deformed by a chemical potential \mu for the spin-three current. We show that the order \mu^2 correction to the Re'nyi and entanglement entropies of a single interval i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6fcb5ee298f887f9d14709ffee161b6
Publikováno v:
Journal of High Energy Physics
We consider free fermion and free boson CFTs in two dimensions, deformed by a chemical potential $\mu$ for the spin-three current. For the CFT on the infinite spatial line, we calculate the finite temperature entanglement entropy of a single interval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bce88888e730f8ac765dbbcb69e7ca3
https://cronfa.swan.ac.uk/Record/cronfa17292/Download/0017292-27042015193954.pdf
https://cronfa.swan.ac.uk/Record/cronfa17292/Download/0017292-27042015193954.pdf
We study black holes carrying higher spin charge in AdS3 within the framework of SL(N, R) x SL(N, R) Chern-Simons theory. Focussing attention on the N=4 case, we explicitly analyze the asymptotic symmetry algebra of black hole solutions with a chemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c233bbefe532168dcf9d94e3419d0f6
Publikováno v:
Journal of High Energy Physics. 2012
We examine the thermodynamic properties of recently constructed black hole solutions in SL(3,R) x SL(3,R) Chern-Simons theory in the presence of a chemical potential for spin-3 charge, which acts as an irrelevant deformation of the dual CFT with W_3