Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Autor: John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight

Publikováno v: Genome Medicine, Vol 11, Iss 1, Pp 1-12 (2019)

Abstract Background A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here

Externí odkaz: https://doaj.org/article/cdc63af88c78403ab16517dff6627483

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Autor: Lynn Quek, Anne Goriely, Ondrej Cais, Christopher Yau, Lars Fugger, John Broxholme, Niko Popitsch, David Beeson, Zoya Kingsbury, M. Andrew Nesbit, David J. Nutt, Christopher Holmes, Andrew J. Rimmer, Fredrik Karpe, John Taylor, Andrea H. Németh, Veronica J. Buckle, Rodney D. Gilbert, Natasha Sahgal, Sian E. Piret, Alistair T. Pagnamenta, Elizabeth Sweeney, Stefano Lise, Sarah Lamble, Moustafa Attar, Christian Babbs, Mary Frances McMullin, Adrian V. S. Hill, Ingo H. Greger, Per Soelberg Sørensen, Michael P. Whyte, Paolo Piazza, Lorna Witty, Lorne Lonie, Emma E. Davenport, Peter J. Ratcliffe, Peter Humburg, Simon J. McGowan, Holger Cario, Chris Allan, Usha Kini, Malcolm F. Howard, Alexandra Russo, Simon Fiddy, Fiona Powrie, Pauline A. van Schouwenburg, Jude Craft, Andrew O.M. Wilkie, Aimee L. Fenwick, Jennifer Becq, Elizabeth Ormondroyd, Nayia Petousi, Richard R. Copley, Joshua Luck, David Buck, Hilary C. Martin, Katherine R. Bull, Holm H. Uhlig, Russell J. Grocock, Timothy J. Vyse, Smita Y. Patel, Gerton Lunter, Sean Humphray, Helen Chapel, Peter Donnelly, Karin Dahan, Calliope A. Dendrou, Edward Blair, Peter A. Robbins, Davis J. McCarthy, Kerry A. Miller, Rajesh V. Thakker, A. Radu Aricescu, Gilean McVean, Alison Simmons, Annette Bang Oturai, Julian C. Knight, David W. Johnson, Craig B. Langman, Earl D. Silverman, Anja V. Gruszczyk, Olivier Devuyst, Jean-Baptiste Cazier, Paresh Vyas, John I. Bell, Kathryn J. H. Robson, Ian Tomlinson, Jenny C. Taylor, Amy Trebes, Anna Schuh, Linda Hughes, Stephen R.F. Twigg, Hugh Watkins, Celeste Bento, Melanie J. Percy, Robert W. Hastings, Jonathan Flint, Richard J. Cornall, Edouard Hatton, Doug Higgs, P Bignell, Guadalupe Polanco-Echeverry, Angie Green, Jon P. Krohn, Ben Wright, David Bentley, Christopher W. Pugh, Steven A. Wall, Lisa Murray, Alexander Kanapin

Publikováno v: Nat Genet
Nature genetics
Taylor, J C, Martin, H C, Lise, S, Broxholme, J, Cazier, J-B, Rimmer, A, Kanapin, A, Lunter, G, Fiddy, S, Allan, C, Aricescu, A R, Attar, M, Babbs, C, Becq, J, Beeson, D, Bento, C, Bignell, P, Blair, E, Buckle, V J, Bull, K, Cais, O, Cario, H, Chapel, H, Copley, R R, Cornall, R, Craft, J, Dahan, K, Davenport, E E, Dendrou, C, Devuyst, O, Fenwick, A L, Flint, J, Fugger, L, Gilbert, R D, Goriely, A, Green, A, Greger, I H, Grocock, R, Gruszczyk, A V, Hastings, R, Hatton, E, Higgs, D, Hill, A, Holmes, C, Howard, M, Hughes, L, Humburg, P, Johnson, D, Karpe, F, Kingsbury, Z, Kini, U, Knight, J C, Krohn, J, Lamble, S, Langman, C, Lonie, L, Luck, J, McCarthy, D, McGowan, S J, McMullin, M F, Miller, K A, Murray, L, Németh, A H, Nesbit, M A, Nutt, D, Ormondroyd, E, Oturai, A B, Pagnamenta, A, Patel, S Y, Percy, M, Petousi, N, Piazza, P, Piret, S E, Polanco-Echeverry, G, Popitsch, N, Powrie, F, Pugh, C, Quek, L, Robbins, P A, Robson, K, Russo, A, Sahgal, N, van Schouwenburg, P A, Schuh, A, Silverman, E, Simmons, A, Sørensen, P S, Sweeney, E, Taylor, J, Thakker, R V, Tomlinson, I, Trebes, A, Twigg, S R F, Uhlig, H H, Vyas, P, Vyse, T, Wall, S A, Watkins, H, Whyte, M P, Witty, L, Wright, B, Yau, C, Buck, D, Humphray, S, Ratcliffe, P J, Bell, J I, Wilkie, A O M, Bentley, D, Donnelly, P & McVean, G 2015, ' Factors influencing success of clinical genome sequencing across a broad spectrum of disorders ', Nature Genetics, vol. 47, no. 7, pp. 717-26 . https://doi.org/10.1038/ng.3304

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264c462e19ca02924993dc0e5f946c23
https://doi.org/10.1038/ng.3304

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Autor: Taylor, John¹ (AUTHOR) john.taylor@ouh.nhs.uk, Craft, Jude¹ (AUTHOR) judith.craft@ouh.nhs.uk, Blair, Edward¹ (AUTHOR) ed.blair@ouh.nhs.uk, Wordsworth, Sarah^2,3 (AUTHOR) sarah.wordsworth@ndph.ox.ac.uk, Beeson, David⁴ (AUTHOR) david.beeson@ndcn.ox.ac.uk, Chandratre, Saleel⁵ (AUTHOR) saleel.chandratre@ouh.nhs.uk, Cossins, Judith⁴ (AUTHOR) judith.cossins@ndcn.ox.ac.uk, Lester, Tracy¹ (AUTHOR) tracy.lester@ouh.nhs.uk, Németh, Andrea H.^1,6 (AUTHOR) andrea.nemeth@ndcn.ox.ac.uk, Ormondroyd, Elizabeth^3,7 (AUTHOR) liz.ormondroyd@cardiov.ox.ac.uk, Patel, Smita Y.^3,8 (AUTHOR) smita.patel@ndm.ox.ac.uk, Pagnamenta, Alistair T.^3,9 (AUTHOR) alistair@well.ox.ac.uk, Taylor, Jenny C.^3,9 (AUTHOR) jenny@well.ox.ac.uk, Thomson, Kate L.¹ (AUTHOR) Kate.Thomson@ouh.nhs.uk, Watkins, Hugh^3,7,9 (AUTHOR) hugh.watkins@rdm.ox.ac.uk, Wilkie, Andrew O. M.^1,3,4 (AUTHOR) andrew.wilkie@imm.ox.ac.uk, Knight, Julian C.^3,9 (AUTHOR) julian@well.ox.ac.uk

Publikováno v: Genome Medicine. 7/25/2019, Vol. 11 Issue 1, pN.PAG-N.PAG. 1p.

Precision Medicine: Where Are We and Where Are We Going?

Autor: Rina Kansal

The book is written and edited by an individual fortunate to see and work through the evolution of precision medicine in the last three decades. The book begins with an introduction to genomics and precision medicine, followed by a chapter on pediatr