Patrick Tarpey

Patrick Tarpey

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Patrick Tarpey

Patrick Tarpey

Publications by authors named "Patrick Tarpey"

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Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways.

Cancer Cell 2019 Mar;35(3):441-456.e8

Research Department of Pathology, Cancer Institute, University College London, London WC1E 6BT, UK; Department of Cellular and Molecular Pathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex HA7 4LP, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2019.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428691PMC
March 2019

cgpCaVEManWrapper: Simple Execution of CaVEMan in Order to Detect Somatic Single Nucleotide Variants in NGS Data.

Curr Protoc Bioinformatics 2016 12 8;56:15.10.1-15.10.18. Epub 2016 Dec 8.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/cpbi.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097605PMC
December 2016

ascatNgs: Identifying Somatically Acquired Copy-Number Alterations from Whole-Genome Sequencing Data.

Curr Protoc Bioinformatics 2016 12 8;56:15.9.1-15.9.17. Epub 2016 Dec 8.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/cpbi.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097604PMC
December 2016

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

Nat Commun 2015 Dec 9;6:10001. Epub 2015 Dec 9.

CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Baldiri i Reixac 4, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1038/ncomms10001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682041PMC
December 2015

cgpPindel: Identifying Somatically Acquired Insertion and Deletion Events from Paired End Sequencing.

Curr Protoc Bioinformatics 2015 Dec 17;52:15.7.1-15.7.12. Epub 2015 Dec 17.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/0471250953.bi1507s52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097606PMC
December 2015

VAGrENT: Variation Annotation Generator.

Curr Protoc Bioinformatics 2015 Dec 17;52:15.8.1-15.8.11. Epub 2015 Dec 17.

Cancer Genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/0471250953.bi1508s52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101192PMC
December 2015

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

J Pathol Clin Res 2015 Apr 16;1(2):113-23. Epub 2015 Mar 16.

UCL Cancer Institute, University College LondonHuntley StreetLondonUK; Sarah Cannon-University College London Advanced Diagnostics Molecular Profiling Research LaboratoriesUCL Cancer Institute, UCLLondonUK; Department of HistopathologyRoyal National Orthopaedic Hospital NHS TrustMiddlesexUK.

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http://dx.doi.org/10.1002/cjp2.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858131PMC
April 2015

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Nat Genet 2015 Mar 2;47(3):257-62. Epub 2015 Feb 2.

1] Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada. [3] Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [4] Department of Pediatrics, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ng.3202DOI Listing
March 2015

Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.

Cancer Med 2014 Aug 27;3(4):980-7. Epub 2014 May 27.

Histopathology, London Sarcoma Service, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, U.K; UCL Cancer Institute, Huntley Street, London, WC1E 6BT, U.K.

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http://dx.doi.org/10.1002/cam4.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303166PMC
August 2014

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes.

Science 2014 Aug;345(6196):1251343

Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1126/science.1251343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380235PMC
August 2014

What is next generation sequencing?

Arch Dis Child Educ Pract Ed 2013 Dec 28;98(6):236-8. Epub 2013 Aug 28.

Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, , Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1136/archdischild-2013-304340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841808PMC
December 2013

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

Breast Cancer Res Treat 2012 Jul 18;134(1):429-33. Epub 2012 Apr 18.

Division of Genetics and Epidemiology, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.

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http://link.springer.com/10.1007/s10549-012-2057-x
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http://dx.doi.org/10.1007/s10549-012-2057-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781770PMC
July 2012

Intratumor heterogeneity and branched evolution revealed by multiregion sequencing.

N Engl J Med 2012 Mar;366(10):883-892

Cancer Research UK London Research Institute (M. Gerlinger, A.J.R., S.H., D.E., E.G., P.M., N.M., A.S., B.P., S.B., N.Q.M., C.R.S., B.S.-D., G.C., G.S., J.D., C.S.), Royal Marsden Hospital Department of Medicine (J.L., M.N., L.P., G.S., M. Gore), Wellcome Trust Sanger Institute (P.T., I.V., A.B., D.J., K.R., C.L., P.A.F.), Barts Cancer Institute at the Barts and the London School of Medicine and Dentistry (M. Gerlinger), and the University College London Cancer Institute (C.S.) - all in London; the Technical University of Denmark, Lyngby (A.C.E., Z.S.); and Harvard Medical School, Boston (Z.S.). Address reprint requests to Dr. Swanton at the Cancer Research UK London Research Institute, Translational Cancer Therapeutics Laboratory, 44 Lincoln's Inn Fields, London WC2A 3LY, United Kingdom, or at

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http://dx.doi.org/10.1056/NEJMoa1113205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878653PMC
March 2012

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Arena syndrome is caused by a missense mutation in PLP1.

Am J Med Genet A 2009 May;149A(5):1081

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

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http://doi.wiley.com/10.1002/ajmg.a.32795
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http://dx.doi.org/10.1002/ajmg.a.32795DOI Listing
May 2009

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders.

Neuromuscul Disord 2008 Aug 7;18(8):606-9. Epub 2008 Jul 7.

Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2008.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873833PMC
August 2008

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.

Hum Genet 2008 Jun 11;123(5):469-76. Epub 2008 Apr 11.

McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1007/s00439-008-0498-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714970PMC
June 2008

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.

Am J Hum Genet 2008 May 1;82(5):1150-7. Epub 2008 May 1.

Laboratoire de Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781), Université Paris Descartes, Hôpital Necker-Enfants Malades, F-75015 Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427205PMC
May 2008

The genetics of mental retardation.

Hum Mol Genet 2006 Oct;15 Spec No 2:R110-6

Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrookes Hospital, Cambridge CB2 2XY, UK.

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http://dx.doi.org/10.1093/hmg/ddl189DOI Listing
October 2006

Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization.

Genes Chromosomes Cancer 2005 Dec;44(4):384-91

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://doi.wiley.com/10.1002/gcc.20252
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http://dx.doi.org/10.1002/gcc.20252DOI Listing
December 2005

Comparative sequence analysis.

Methods Mol Med 2004 ;92:115-24

National Genetics Reference Laboratory, Wessex Regional Genetics, Salisbury District Hospital, UK.

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http://dx.doi.org/10.1385/1-59259-432-8:115DOI Listing
April 2004

High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes.

Genes Chromosomes Cancer 2003 Jul;37(3):282-90

Department of Academic Haematology, Royal Free and University College School of Medicine, University College London, United Kingdom.

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http://dx.doi.org/10.1002/gcc.10215DOI Listing
July 2003