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المؤلفون: C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J.W. Adlard, J. Barwell, J. Berg, A.F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P.J. Morrison, J. Paterson, M. Porteous, M.T. Rogers, L. Walker, D. Eccles, D.G. Evans, K. Snape, H. Hanson, R.S. Houlston, C. Turnbull, A. Ardern-Jones, J. Adlard, M. Ahmed, G. Attard, K. Bailey, E. Bancroft, C. Bardsley, D. Barton, M. Bartlett, L. Baxter, R. Belk, B. Bernhard, T. Bishop, L. Boyes, N. Bradshaw, S. Brant, G. Brice, G. Bromilow, C. Brooks, A. Bruce, B. Bulman, L. Burgess, J. Campbell, N. Canham, B. Castle, R. Cetnarskyj, O. Claber, N. Coates, T. Cole, A. Collins, S. Coulson, G. Crawford, D. Cruger, C. Cummings, L. D’Mello, L. Day, B. Dell, C. Dolling, H. Dorkins, S. Downing, S. Drummond, C. Dubras, J. Dunlop, S. Durrell, C. Eddy, M. Edwards, E. Edwards, J. Edwardson, R. Eeles, I. Ellis, F. Elmslie, G. Evans, B. Gibbons, C. Gardiner, N. Ghali, C. Giblin, S. Gibson, S. Goff, S. Goodman, D. Goudie, J. Grier, H. Gregory, S. Halliday, R. Hardy, C. Hartigan, T. Heaton, C. Higgins, S. Hodgson, T. Homfray, D. Horrigan, C. Houghton, L. Hughes, V. Hunt, L. Irvine, C. Jacobs, S. James, M. James, L. Jeffers, I. Jobson, W. Jones, M.J. Kennedy, S. Kenwrick, C. Kightley, C. Kirk, E. Kirk, E. Kivuva, K. Kohut, M. Kosicka-Slawinska, A. Kulkarni, N. Lambord, C. Langman, P. Leonard, S. Levene, S. Locker, P. Logan, M. Longmuir, A. Lucassen, V. Lyus, A. Magee, A. Male, S. Mansour, D. McBride, E. McCann, V. McConnell, M. McEntagart, C. McKeown, L. McLeish, D. McLeod, A. Melville, L. Mercer, C. Mercer, A. Mitra, V. Murday, A. Murray, K. Myhill, J. Myring, E. O'Hara, P. Pearson, G. Pichert, K. Platt, C. Pottinger, S. Price, L. Protheroe, S. Pugh, O. Quarrell, K. Randhawa, C. Riddick, L. Robertson, A. Robinson, V. Roffey-Johnson, M. Rogers, S. Rose, S. Rowe, A. Schofield, N. Rahman, S. Saya, G. Scott, J. Scott, A. Searle, S. Shanley, S. Sharif, A. Shaw, J. Shaw, J. Shea-Simonds, L. Side, J. Sillibourne, K. Simon, S. Simpson, S. Slater, S. Smalley, K. Smith, L. Snadden, J. Soloway, Y. Stait, B. Stayner, M. Steel, C. Steel, H. Stewart, D. Stirling, M. Thomas, S. Thomas, S. Tomkins, H. Turner, A. Vandersteen, E. Wakeling, F. Waldrup, C. Watt, S. Watts, A. Webber, C. Whyte, J. Wiggins, E. Williams, L. Winchester
المصدر: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016/j.annonc.2022.09.152مصطلحات موضوعية: Adult, Ovarian Neoplasms, rare-variant burden testing, Whole exome sequencing, Breast Neoplasms, Triple Negative Breast Neoplasms, Hematology, breast cancer, SDG 3 - Good Health and Well-being, Oncology, Humans, Female, Genetic Predisposition to Disease, cancer susceptibility genes, whole-exome sequencing, Rare variant burden testing, Germ-Line Mutation, Retrospective Studies, genetic susceptibility
وصف الملف: application/pdf; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6986764441617a144e724063e762ecf
https://research.manchester.ac.uk/en/publications/2e088aaa-ff70-4a90-af9a-d3d781a5a2ad -
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المؤلفون: Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
المصدر: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Nonsynonymous substitution, Heterozygote, phenotype, Developmental Disabilities, genotype, Dwarfism, Biology, Article, naive Bayes, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Similarity (network science), developmental disease, Exome Sequencing, Genotype, Genetics, medicine, Humans, tSNE, Exome, Genetic Predisposition to Disease, Child, Gene, Allele frequency, Genetics (clinical), Spectrin, Bayes Theorem, medicine.disease, Repressor Proteins, Developmental disorder, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015 -
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المؤلفون: Helen V. Firth, Caroline F. Wright, E. Kivuva, H. Copeland
المساهمون: Apollo - University of Cambridge Repository
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Clinical audit, Proband, medicine.medical_specialty, Developmental Disabilities, Emotions, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Advanced maternal age, Genetic Testing, Child, Referral and Consultation, Genetics (clinical), Response rate (survey), business.industry, Scale (social sciences), Family medicine, Cohort, Medical genetics, Female, Thematic analysis, business, Psychosocial, 030217 neurology & neurosurgery
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