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Nature Biotechnology, ISSN 1087-0156, 01/2012, Volume 30, Issue 1, pp. 61 - 68
Distinguishing single-nucleotide variants (SNVs) from errors in whole-genome sequences remains challenging. Here we describe a set of filters, together with a... 
BROWSER | DATABASE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | FRAMEWORK | COMMON | COMPUTATIONAL TOOL | MUTATIONS | SPECTRUM | Usage | Gene mutations | Genetic aspects | Nucleotide sequencing | Research | Twins | DNA sequencing | Tumors | Genetic research | Filters | Genomes | Mutation | Genomics
Journal Article
by Bolton, Kelly L and Chenevix- Trench, Georgia and Goh, Cindy and Sadetzki, Siegal and Ramus, Susan J and Karlan, Beth Y and Lambrechts, Diether and Despierre, Evelyn and Barrowdale, Daniel and McGuffog, Lesley and Healey, Sue and Easton, Douglas F and Sinilnikova, Olga and Benítez, Javier and García, María J and Neuhausen, Susan and Gail, Mitchell H and Hartge, Patricia and Peock, Susan and Frost, Debra and Evans, D. Gareth and Eeles, Rosalind and Godwin, Andrew K and Daly, Mary B and Kwong, Ava and Ma, Edmond S. K and Lázaro, Conxi and Blanco, Ignacio and Montagna, Marco and D'Andrea, Emma and Nicoletto, Maria Ornella and Johnatty, Sharon E and Kjær, Susanne Krüger and Jensen, Allan and Høgdall, Estrid and Goode, Ellen L and Fridley, Brooke L and Loud, Jennifer T and Greene, Mark H and Mai, Phuong L and Chetrit, Angela and Lubin, Flora and Hirsh-Yechezkel, Galit and Glendon, Gord and Andrulis, Irene L and Toland, Amanda E and Senter, Leigha and Gore, Martin E and Gourley, Charlie and Michie, Caroline O and Song, Honglin and Tyrer, Jonathan and Whittemore, Alice S and McGuire, Valerie and Sieh, Weiva and Kristoffersson, Ulf and Olsson, Håkan and Borg, Åke and Levine, Douglas A and Steele, Linda and Beattie, Mary S and Chan, Salina and Nussbaum, Robert L and Moysich, Kirsten B and Gross, Jenny and Cass, Ilana and Walsh, Christine and Li, Andrew J and Leuchter, Ronald and Gordon, Ora and Garcia-Closas, Montserrat and Gayther, Simon A and Chanock, Stephen J and Antoniou, Antonis C and Pharoah, Paul D. P and EMBRACE, kConFab Investigators, and The Cancer Genome Atlas Research Network, for the and KConFab Investigators and Canc Genome Atlas Res Network and EMBRACE and Cancer Genome Atlas Research Network and kConFab Investigators and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and EpiHealth: Epidemiology for Health and Lunds universitet
JAMA, ISSN 0098-7484, 01/2012, Volume 307, Issue 4, pp. 382 - 389
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
by Pharoah, P.D and Tsai, Y.Y and Ramus, S.J and Phelan, C.M and Goode, E.L and Lawrenson, K and Buckley, M and Fridley, B.L and Tyrer, J.P and Shen, H and Weber, R and Karevan, R and Larson, M.C and Song, H and Tessier, D.C and Bacot, F and Vincent, D and Cunningham, J.M and Dennis, J and Dicks, E and Aben, K.K.H and Anton-Culver, H and Antonenkova, N and Armasu, S.M and Baglietto, L and Bandera, E.V and Beckmann, M.W and Birrer, M.J and Bloom, G and Bogdanova, N and Brenton, J.D and Brinton, L.A and Brooks-Wilson, A and Brown, R and Butzow, R and Campbell, I and Carney, M.E and Carvalho, R.S and Chang-Claude, J and Chen, Y.A and Chen, Z and Chow, W.H and Cicek, M.S and Coetzee, G and Cook, L.S and Cramer, D.W and Cybulski, C and Dansonka-Mieszkowska, A and Despierre, E and Doherty, J.A and Dork, T and Bois, A. du and Durst, M and Eccles, D and Edwards, R and Ekici, A.B and Fasching, P.A and Fenstermacher, D and Flanagan, J and Gao, Y.T and Garcia-Closas, M and Gentry-Maharaj, A and Giles, G and Gjyshi, A and Gore, M and Gronwald, J and Guo, Q and Halle, M.K and Harter, P and Hein, A and Heitz, F and Hillemanns, P and Hoatlin, M and Hogdall, E and Hogdall, C.K and Hosono, S and Jakubowska, A and Jensen, A and Kalli, K.R and Karlan, B.Y and Kelemen, L.E and Kiemeney, L.A.L.M and Kjaer, S.K and Konecny, G.E and Krakstad, C and Kupryjanczyk, J and Lambrechts, D and Lambrechts, S and Le, N.D and Lee, N and Lee, J. van der and Leminen, A and Lim, B.K and Lissowska, J and Lubinski, J and Lundvall, L and Lurie, G and Massuger, L.F.A.G and Altena, A.M. van and Australian Ovarian Canc Study Grp and Australian Canc Study and Australian Ovarian Cancer Study Group and Australian Cancer Study
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 362 - 370
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 02/2014, Volume 32, Issue 4, pp. 320 - 326
Journal Article
by Goode, E.L and Chenevix-Trench, G and Song, H and Ramus, S.J and Notaridou, M and Lawrenson, K and Widschwendter, M and Vierkant, R.A and Larson, M.C and Kjaer, S.K and Birrer, M.J and Berchuck, A and Schildkraut, J and Tomlinson, I.P and Kiemeney, L.A.L.M and Cook, L.S and Gronwald, J and Garcia-Closas, M and Gore, M.E and Campbell, I and Whittemore, A.S and Sutphen, R and Phelan, C.M and Anton-Culver, H and Pearce, C.L and Lambrechts, D and Rossing, M.A and Chang-Claude, J and Moysich, K.B and Goodman, M.T and Dork, T and Nevanlinna, H and Ness, R.B and Rafnar, T and Hogdall, E and Fridley, B.L and Cunningham, J.M and Sieh, W and McGuire, V and Godwin, A.K and Cramer, D.W and Hernandez, D and Levine, D and Lu, K and Iversen, E.S and Palmieri, R.T and Houlston, R.S and Altena, A.M. van and Aben, K.K.H and Massuger, L.F.A.G and Brooks-Wilson, A and Kelemen, L.E and Le, N.D and Jakubowska, A and Lubinski, J and Meek, K and Stafford, A and Easton, D.F and Tyrer, J.P and Bolton, K.L and Harrington, P and Eccles, D and Chen, A and Molina, A.N and Davila, B.N and Arango, H and Tsai, Y.Y and Chen, Z and Risch, H.A and McLaughlin, J and Narod, S and Ziogas, A and Brewster, W and Gentry-Maharaj, A and Menon, U and Wu, A.H and Stram, D.O and Pike, M.C and Beesley, J and Webb, P.M and Chen, X and Ekici, A.B and Thiel, F.C and Beckmann, M.W and Yang, H and Wentzensen, N and Lissowska, J and Fasching, P.A and Despierre, E and Amant, F and Vergote, I and Doherty, J and Hein, R and Wang-Gohrke, S and Lurie, G and Carney, M.E and Thompson, P and OCAC and Wellcome Trust Case-Control Conso and Australian Ovarian Canc Study Grp and Australian Canc Study Ovarian Canc and Australian Ovarian Cancer Study Group and Wellcome Trust Case-Control Consortium and Australian Cancer Study (Ovarian Cancer) and Ovarian Cancer Association Consortium (OCAC) and the Ovarian Cancer Association Consortium (OCAC) and The Wellcome Trust Case-Control Consortium and The Australian Ovarian Cancer Study Group and The Australian Cancer Study (Ovarian Cancer)
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 874 - 879
Journal Article
British Journal of Cancer, ISSN 0007-0920, 03/2011, Volume 104, Issue 5, pp. 863 - 870
Journal Article
by Bolton, K.L and Tyrer, J.P and Song, H and Ramus, S.J and Notaridou, M and Jones, C and Sher, T and Gentry-Maharaj, A and Wozniak, E and Tsai, Y.Y and Weidhaas, J and Paik, D and Berg, D. Van den and Stram, D.O and Pearce, C.L and Wu, A.H and Brewster, W and Anton-Culver, H and Ziogas, A and Narod, S and Levine, D.A and Kaye, S.B and Brown, R and Paul, J and Flanagan, J and Sieh, W and McGuire, V and Whittemore, A.S and Campbell, I and Gore, M.E and Lissowska, J and Yang, H.P and Meek, K and Gronwald, J and Lubinski, J and Jakubowska, A and Le, N.D and Cook, L.S and Keleman, L.E and Brook-Wilson, A and Massuger, L.F.A.G and Kiemeney, L.A.L.M and Aben, K.K.H and Altena, A.M. van and Houlston, R.S and Tomlinson, I and Palmieri, R.T and Moorman, P.G and Schildkraut, J and Iversen, E.S and Phelan, C.M and Vierkant, R.A and Cunningham, J.M and Goode, E.L and Fridley, B.L and Kruger-Kjaer, S and Blaeker, J and Hogdall, E and Hogdall, C and Gross, J and Karlan, B.Y and Ness, R.B and Edwards, R.P and Odunsi, K and Moyisch, K.B and Baker, J.A and Modugno, F and Heikkinenen, T and Butzow, R and Nevanlinna, H and Leminen, A and Bogdanova, N and Antonenkova, N and Doerk, T and Hillemanns, P and Durst, M and Runnebaum, I and Thompson, P.J and Carney, M.E and Goodman, M.T and Lurie, G and Wang-Gohrke, S and Hein, R and Chang-Claude, J and Rossing, M.A and Cushing-Haugen, K.L and Doherty, J and Chen, C and Rafnar, T and Besenbacher, S and Sulem, P and Stefansson, K and Birrer, M.J and Australian Ovarian Canc Study Grp and Ovarian Canc Assoc Consortium and Australian Canc Study Ovarian Canc and Australian Ovarian Cancer Study Group and Ovarian Cancer Association Consortium and Australian Cancer Study (Ovarian Cancer) and on behalf of the Ovarian Cancer Association Consortium and the Australian Ovarian Cancer Study Group and the Australian Cancer Study (Ovarian Cancer)
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 880 - 884
Journal Article
by Shen, H and Fridley, B.L and Song, H and Lawrenson, K and Cunningham, J.M and Ramus, S.J and Cicek, M.S and Tyrer, J and Stram, D and Larson, M.C and Kobel, M and Ziogas, A and Zheng, W and Yang, H.P and Wu, A.H and Wozniak, E.L and Ling Woo, Y and Winterhoff, B and Wik, E and Whittemore, A.S and Wentzensen, N and Palmieri Weber, R and Vitonis, A.F and Vincent, D and Vierkant, R.A and Vergote, I and Berg, D. Van den and Altena, A.M. van and Tworoger, S.S and Thompson, P.J and Tessier, D.C and Terry, K.L and Teo, S.H and Templeman, C and Stram, D.O and Southey, M.C and Sieh, W and Siddiqui, N and Shvetsov, Y.B and Shu, X.O and Shridhar, V and Wang-Gohrke, S and Severi, G and Schwaab, I and Salvesen, H.B and Rzepecka, I.K and Runnebaum, I.B and Rossing, M.A and Roiguez-Roiguez, L and Risch, H.A and Renner, S.P and Poole, E.M and Pike, M.C and Phelan, C.M and Pelttari, L.M and Pejovic, T and Paul, J and Orlow, I and Zawiah Omar, S and Olson, S.H and Odunsi, K and Nickels, S and Nevanlinna, H and Ness, R.B and Narod, S.A and Nakanishi, T and Moysich, K.B and Monteiro, A.N and Moes-Sosnowska, J and Modugno, F and Menon, U and McLaughlin, J.R and McGuire, V and Matsuo, K and Mat Adenan, N.A and Massuger, L.F.A.G and Lurie, G and Lundvall, L and Lubinski, J and Lissowska, J and Levine, D.A and Leminen, A and Lee, A.W and Le, N.D and Lambrechts, S and Lambrechts, D and Kupryjanczyk, J and Krakstad, C and Konecny, G.E and Kruger Kjaer, S and Kiemeney, L.A.L.M and Kelemen, L.E and Keeney, G.L and Karlan, B.Y and Karevan, R and Kalli, K.R and Kajiyama, H and Ji, B.T and Jensen, A and Jakubowska, A and ... and PRACTICAL Consortium and Australian Ovarian Canc Study Grp and Australian Canc Study and Australian Ovarian Cancer Study Group and Australian Cancer Study
Nature Communications, ISSN 2041-1723, 2013, Volume 4, Issue 1, p. 1628
Journal Article