Search the collection

16 results for WGS500+Consortium

Sort by:

Sort by

Limit results to:

20 per page

16 results for WGS500+Consortium

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline
Author / Creator:Giannoulatou, Eleni ; Maher, Geoffrey J ; Ding, Zhihao ; Gillis, Ad J M ; Dorssers, Lambert C J ; Hoischen, Alexander ; Rajpert-De Meyts, Ewa ; McVean, Gilean ; Wilkie, Andrew O M ; Looijenga, Leendert H J ; Goriely, Anne
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-05, Vol.12 (5), p.e0178169-e0178169
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Author / Creator:Palles, Claire ; Cazier, Jean-Baptiste ; Howarth, Kimberley M ; Domingo, Enric ; Jones, Angela M ; Broderick, Peter ; Kemp, Zoe ; Spain, Sarah L ; Guarino, Estrella ; Salguero, Israel ; Sherborne, Amy ; Chubb, Daniel ; Carvajal-Carmona, Luis G ; Ma, Yusanne ; Kaur, Kulvinder ; Dobbins, Sara ; Barclay, Ella ; Gorman, Maggie ; Martin, Lynn ; Kovac, Michal B ; Humphray, Sean ; Lucassen, Anneke ; Holmes, Christopher C ; Bentley, David ; Donnelly, Peter ; Taylor, Jenny ; Petridis, Christos ; Roylance, Rebecca ; Sawyer, Elinor J ; Kerr, David J ; Clark, Susan ; Grimes, Jonathan ; Kearsey, Stephen E ; Thomas, Huw J W ; McVean, Gilean ; Houlston, Richard S ; Tomlinson, Ian
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-02, Vol.45 (2), p.136-144
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Choice of transcripts and software has a large effect on variant annotation
Author / Creator:McCarthy, Davis J ; Humburg, Peter ; Kanapin, Alexander ; Rivas, Manuel A ; Gaulton, Kyle ; Cazier, Jean-Baptiste ; Donnelly, Peter
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2014-03, Vol.6 (3), p.26-26, Article 26
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesFull Text
Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia
Author / Creator:Palles, Claire ; Chew, Edward ; Grolleman, Judith E ; Galavotti, Sara ; Flensburg, Christoffer ; Erik Am Jansen ; Curley, Helen ; Chegwidden, Laura ; Barnes, Edward Arbe ; Bajel, Ashish ; Sherwood, Kitty ; Martin, Lynn ; Thomas, Huw ; Georgiou, Demetra ; Fostira, Florentia ; Goldberg, Yael ; Adams, David ; Van Der Biezen, Simone ; Christie, Michael ; Clendenning, Mark ; Deltas, Constantinos ; Dimovski, Aleksandar J ; Dymerska, Dagmara ; Lubinski, Jan ; Mahmood, Khalid ; Rachel S Van Der Post ; Sanders, Mathijs ; Weitz, Jurgen ; Taylor, Jenny C ; Turnbull, Clare ; Vreede, Lilian ; Tom Van Wezel ; Whalley, Celina ; Claudia Arnedo Pac ; Caravagna, Gulio ; Cross, William ; Chubb, Daniel ; Frangou, Anna ; Gruber, Andreas ; Kinnersley, Ben ; Noyvert, Boris ; Church, David ; Graham, Trevor ; Houlston, Richard ; Lopez-Bigas, Nuria ; Sottoriva, Andrea ; Wedge, David ; Genomics England Research Consortium ; The Corgi Consortium ; Wgs500 Consortium ; Jenkins, Mark ; Kuiper, Roland P ; Roberts, Andrew W ; Marjolijn Jl Ligtenberg ; Hoogerbrugge, Nicoline ; Koelzer, Viktor ; Andres Dacal Rivas ; Winship, Ingrid ; Clara Ruiz Ruiz Ponte ; Buchanan, Dan ; Tomlinson, Ian Pm ; Majewski, Ian J ; De Voer, Richarda M
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-04
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
Author / Creator:Cazier, J. -B. ; Rao, S. R. ; McLean, C. M. ; Walker, A. K. ; Wright, B. J. ; Jaeger, E. E. M. ; Kartsonaki, C. ; Marsden, L. ; Yau, C. ; Camps, C. ; Kaisaki, P. ; Taylor, J. ; Catto, J. W. ; Tomlinson, I. P. M. ; Kiltie, A. E. ; Hamdy, F. C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-04, Vol.5 (1), p.3756-3756, Article 3756
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
Author / Creator:Rimmer, Andy ; Phan, Hang ; Mathieson, Iain ; Iqbal, Zamin ; Twigg, Stephen R F ; Wilkie, Andrew O M ; McVean, Gil ; Lunter, Gerton
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2014-08, Vol.46 (8), p.912-918
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-03, Vol.45 (3), p.304-307
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease
Author / Creator:Schwerd, T ; Bryant, R V ; Pandey, S ; Capitani, M ; Meran, L ; Cazier, J-B ; Jung, J ; Mondal, K ; Parkes, M ; Mathew, C G ; Fiedler, K ; McCarthy, D J ; Sullivan, P B ; Rodrigues, A ; Travis, S P L ; Moore, C ; Sambrook, J ; Ouwehand, W H ; Roberts, D J ; Danesh, J ; Russell, R K ; Wilson, D C ; Kelsen, J R ; Cornall, R ; Denson, L A ; Kugathasan, S ; Knaus, U G ; Serra, E G ; Anderson, C A ; Duerr, R H ; McGovern, D PB ; Cho, J ; Powrie, F ; Li, V SW ; Muise, A M ; Uhlig, H H
Publisher:New York: Nature Publishing Group US
Journal title:Mucosal immunology, 2018-03, Vol.11 (2), p.562-574
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Correction: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
Author / Creator:Cazier, J. -B. ; Rao, S. R. ; McLean, C. M. ; Walker, A. K. ; Wright, B. J. ; Jaeger, E. E. M. ; Kartsonaki, C. ; Marsden, L. ; Yau, C. ; Camps, C. ; Kaisaki, P. ; Taylor, J. ; Catto, J. W. ; Tomlinson, I. P. M. ; Kiltie, A. E. ; Hamdy, F. C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-10, Vol.5 (1), Article 4809
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Correction: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden
Author / Creator:Cazier, J. -B. ; Rao, S. R. ; McLean, C. M. ; Walker, A. K. ; Wright, B. J. ; Jaeger, E. E. M. ; Kartsonaki, C. ; Marsden, L. ; Yau, C. ; Camps, C. ; Kaisaki, P. ; Taylor, J. ; Catto, J. W. ; Tomlinson, I. P. M. ; Kiltie, A. E. ; Hamdy, F. C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-06, Vol.5 (1), Article 4264
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Author / Creator:Palles, Claire ; Cazier, Jean-Baptiste ; Howarth, Kimberley M ; Domingo, Enric ; Jones, Angela M ; Broderick, Peter ; Kemp, Zoe ; Spain, Sarah L ; Guarino, Estrella ; Salguero, Israel ; Sherborne, Amy ; Chubb, Daniel ; Carvajal-Carmona, Luis G ; Ma, Yusanne ; Kaur, Kulvinder ; Dobbins, Sara ; Barclay, Ella ; Gorman, Maggie ; Martin, Lynn ; Kovac, Michal B ; Humphray, Sean ; Thomas, Huw J W ; Maher, Eamonn ; Evans, Gareth ; Lucassen, Anneke ; Cummings, Carole ; Stevens, Margaret ; Walker, Lisa ; Halliday, Dorothy ; Armstrong, Ruth ; Paterson, Joan ; Hodgson, Shirley ; Homfray, Tessa ; Side, Lucy ; Izatt, Louise ; Donaldson, Alan ; Tomkins, Susan ; Morrison, Patrick ; Goodman, Selina ; Brewer, Carole ; Henderson, Alex ; Davidson, Rosemarie ; Murday, Victoria ; Cook, Jaqueline ; Haites, Neva ; Bishop, Timothy ; Sheridan, Eamonn ; Green, Andrew ; Marks, Christopher ; Carpenter, Sue ; et. al
Publisher:Nature Publishing Group
Journal title:Nature genetics, 2013-06, Vol.45 (6), p.713-713
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Author / Creator:Sharma, Vikram P ; Fenwick, Aimée L ; Brockop, Mia S ; McGowan, Simon J ; Goos, Jacqueline A C ; Hoogeboom, A Jeannette M ; Brady, Angela F ; Jeelani, Nu Owase ; Lynch, Sally Ann ; Mulliken, John B ; Murray, Dylan J ; Phipps, Julie M ; Sweeney, Elizabeth ; Tomkins, Susan E ; Wilson, Louise C ; Bennett, Sophia ; Cornall, Richard J ; Broxholme, John ; Kanapin, Alexander ; Johnson, David ; Wall, Steven A ; van der Spek, Peter J ; Mathijssen, Irene M J ; Maxson, Robert E ; Twigg, Stephen R F ; Wilkie, Andrew O M
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-10, Vol.45 (10), p.1261-1261
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment
Author / Creator:Ceroni, Fabiola ; Simpson, Nuala H ; Francks, Clyde ; Baird, Gillian ; Conti-Ramsden, Gina ; Clark, Ann ; Bolton, Patrick F ; Hennessy, Elizabeth R ; Donnelly, Peter ; Bentley, David R ; Martin, Hilary ; Parr, Jeremy ; Pagnamenta, Alistair T ; Maestrini, Elena ; Bacchelli, Elena ; Fisher, Simon E ; Newbury, Dianne F
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-10, Vol.22 (10), p.1165-1171
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
Author / Creator:Palles, Claire ; Cazier, Jean-Baptiste ; Howarth, Kimberley M ; Domingo, Enric ; Jones, Angela M ; Broderick, Peter ; Kemp, Zoe ; Spain, Sarah L ; Guarino, Estrella ; Salguero, Israel ; Sherborne, Amy ; Chubb, Daniel ; Carvajal-Carmona, Luis G ; Ma, Yusanne ; Kaur, Kulvinder ; Dobbins, Sara ; Barclay, Ella ; Gorman, Maggie ; Martin, Lynn ; Kovac, Michal B ; Humphray, Sean ; Lucassen, Anneke ; Holmes, Christopher C ; Bentley, David ; Donnelly, Peter ; Taylor, Jenny ; Petridis, Christos ; Roylance, Rebecca ; Sawyer, Elinor J ; Kerr, David J ; Clark, Susan ; Grimes, Jonathan ; Kearsey, Stephen E ; Thomas, Huw J W ; McVean, Gilean ; Houlston, Richard S ; Tomlinson, Ian
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-06, Vol.45 (6), p.713-713
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Author / Creator:Perrino, Peter A. ; Talbot, Lidiya ; Kirkland, Rose ; Hill, Amanda ; Rendall, Amanda R. ; Mountford, Hayley S. ; Taylor, Jenny ; Buscarello, Alexzandrea N. ; Lahiri, Nayana ; Saggar, Anand ; Fitch, R. Holly ; Newbury, Dianne F.
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2020-04, Vol.3 (1), p.180, Article 180
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'
Author / Creator:Ceroni, Fabiola ; Simpson, Nuala H ; Francks, Clyde ; Baird, Gillian ; Conti-Ramsden, Gina ; Clark, Ann ; Bolton, Patrick F ; Hennessy, Elizabeth R ; Donnelly, Peter ; Bentley, David R ; Martin, Hilary ; Parr, Jeremy ; Pagnamenta, Alistair T ; Maestrini, Elena ; Bacchelli, Elena ; Fisher, Simon E ; Newbury, Dianne F
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1113-1115
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

Export this record

Export record to excel

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Export this record

Export record to excel

Choice of transcripts and software has a large effect on variant annotation

Export this record

Export record to excel

Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

Export this record

Export record to excel

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Export this record

Export record to excel

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Export this record

Export record to excel

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Export this record

Export record to excel

NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease

Export this record

Export record to excel

Correction: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Export this record

Export record to excel

Correction: Corrigendum: Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Export this record

Export record to excel

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Export this record

Export record to excel

Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Export this record

Export record to excel

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

Export this record

Export record to excel

Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Export this record

Export record to excel

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Export this record

Export record to excel

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

Refine your search