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  • Personalized genomic analyses for cancer mutation discovery and interpretation | Science Translational Medicine
    Find this author on PubMed Search for this author on this site Kevin G Galens Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Derek Murphy Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Theresa Zhang Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Lisa Kann Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mark Sausen Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Samuel V Angiuoli Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Luis A Diaz Jr The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Victor E Velculescu The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF You are currently viewing the View Full Text Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Join Subscribe Purchase Article Activate Member Account Renew Subscription Recommend a subscription to your library Help for librarians Science Translational Medicine Vol 7 Issue 283 15 April 2015 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Personalized genomic analyses for cancer mutation discovery and interpretation Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to my folders User Name Password Remember my user name password Submit Alerts Please log in to add an alert for this article Username Enter your Sciencemag org username Password Enter the password that accompanies your username Log in Request Permissions Citation tools Personalized genomic analyses for cancer mutation discovery

    Original URL path: http://stm.sciencemag.org/content/7/283/283ra53.figures-only (2016-02-10)
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  • Personalized genomic analyses for cancer mutation discovery and interpretation | Science Translational Medicine
    author on this site Lisa Kann Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mark Sausen Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Samuel V Angiuoli Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Luis A Diaz Jr The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Victor E Velculescu The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Article Information vol 7 no 283 283ra53 DOI http dx doi org 10 1126 scitranslmed aaa7161 PubMed 25877891 Published By American Association for the Advancement of Science Print ISSN 1946 6234 Online ISSN 1946 6242 History Received for publication 18 January 2015 Accepted for publication 6 March 2015 Copyright Usage Copyright 2015 American Association for the Advancement of Science Author Information Siân Jones 1 Valsamo Anagnostou 2 Karli Lytle 1 Sonya Parpart Li 1 Monica Nesselbush 1 David R Riley 1 Manish Shukla 1 Bryan Chesnick 1 Maura Kadan 1 Eniko Papp 2 Kevin G Galens 1 Derek Murphy 1 Theresa Zhang 1 Lisa Kann 1 Mark Sausen 1 Samuel V Angiuoli 1 Luis A Diaz Jr 2 and Victor E Velculescu 2 1 Personal Genome Diagnostics Baltimore MD 21224 USA 2 The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Corresponding author E mail velculescu at jhmi edu AltMetrics No Altmetric data available for this article Article usage Abstract Full PDF Apr 2015 16439 1677 2418 May 2015 3967 291 600 Jun 2015 1476 159 314 Jul 2015 841 137 261 Aug 2015 186 87 150 Sep 2015 270 78 186 Oct 2015 200 93 182 Nov 2015 191 78 160 Dec 2015 218 66 143 Jan 2016 571 48 116 Feb 2016 155 17 39 View Full Text Science Translational Medicine Vol 7 Issue 283 15 April 2015 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Personalized genomic analyses for cancer mutation discovery and interpretation Message

    Original URL path: http://stm.sciencemag.org/content/7/283/283ra53.article-info (2016-02-10)
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  • Personalized genomic analyses for cancer mutation discovery and interpretation | Science Translational Medicine
    Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Lisa Kann Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mark Sausen Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Samuel V Angiuoli Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Luis A Diaz Jr The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Victor E Velculescu The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Submit a Response to This Article Compose eLetter Title Contents More information about text formats Plain text Plain text No HTML tags allowed Web page addresses and e mail addresses turn into links automatically Lines and paragraphs break automatically Upload Tables and Figures Attach tables e g doc and figures jpg gif tif by choosing the desired file and then uploading them below Add a new file Upload Files must be less than 100 MB Allowed file types doc jpg jpeg gif tif pdf File names can only contain the following characters A Z a z 0 9 Author Information Contributors First name and middle name First or given name e g Peter Last Name Your last or family name e g MacMoody Email Your email address e g higgs boson gmail com Role Occupation Your role and or occupation e g Orthopedic Surgeon Affiliation Your organization or institution if applicable e g Royal Free Hospital Add another contributor optional Statement of Competing Interests Competing interests Yes No Please describe the competing interests Highwire Comment Subject Apath Vertical Tabs Submit No eLetters have been published for this article View Full Text Science Translational Medicine Vol 7 Issue 283 15 April 2015 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Personalized genomic analyses for cancer mutation discovery and interpretation Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you

    Original URL path: http://stm.sciencemag.org/content/7/283/283ra53.e-letters (2016-02-10)
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  • Personalized genomic analyses for cancer mutation discovery and interpretation | Science Translational Medicine
    this site Kevin G Galens Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Derek Murphy Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Theresa Zhang Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Lisa Kann Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mark Sausen Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Samuel V Angiuoli Personal Genome Diagnostics Baltimore MD 21224 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Luis A Diaz Jr The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Victor E Velculescu The Sidney Kimmel Comprehensive Cancer Center The Johns Hopkins University School of Medicine Baltimore MD 21287 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Log in to view full text Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Join Subscribe Purchase Article Activate Member Account Renew Subscription Recommend a subscription to your library Help for librarians Science Translational Medicine Vol 7 Issue 283 15 April 2015 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Personalized genomic analyses for cancer mutation discovery and interpretation Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to my folders User Name Password Remember my user name password Submit Alerts Please log in to add an alert for this article Username Enter your Sciencemag org username Password Enter the password that accompanies your username Log in Request Permissions Citation tools Personalized genomic analyses for cancer mutation discovery and interpretation By Siân Jones Valsamo Anagnostou Karli Lytle Sonya Parpart Li

    Original URL path: http://stm.sciencemag.org/content/7/283/283ra53.full (2016-02-10)
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  • Table of Contents — April 15, 2015, 7 (283) | Science Translational Medicine
    Juan Fu David B Kanne Meredith Leong Laura Hix Glickman Sarah M McWhirter Edward Lemmens Ken Mechette Justin J Leong Peter Lauer Weiqun Liu Kelsey E Sivick Qi Zeng Kevin C Soares Lei Zheng Daniel A Portnoy Joshua J Woodward Drew M Pardoll Thomas W Dubensky Jr Young Kim Science Translational Medicine 15 Apr 2015 283ra52 Cyclic dinucleotide formulated cancer vaccine combined with PD 1 blockade can induce regression of tumors that do not express PD L1 constitutively Editor s Summary Abstract Full Text PDF Personalized genomic analyses for cancer mutation discovery and interpretation By Siân Jones Valsamo Anagnostou Karli Lytle Sonya Parpart Li Monica Nesselbush David R Riley Manish Shukla Bryan Chesnick Maura Kadan Eniko Papp Kevin G Galens Derek Murphy Theresa Zhang Lisa Kann Mark Sausen Samuel V Angiuoli Luis A Diaz Jr Victor E Velculescu Science Translational Medicine 15 Apr 2015 283ra53 Analysis of matched tumor and normal DNA from the same patient improves accuracy of identification of actionable mutations allowing better targeting of potential treatments Editor s Summary Abstract Full Text PDF Clonal status of actionable driver events and the timing of mutational processes in cancer evolution By Nicholas McGranahan Francesco Favero Elza C de Bruin Nicolai Juul Birkbak Zoltan Szallasi Charles Swanton Science Translational Medicine 15 Apr 2015 283ra54 Pan cancer analysis of tumor subclonal structures uncovers widespread intratumor heterogeneity in actionable driver events and reveals mutational processes fueling their selection Editor s Summary Abstract Full Text PDF Clinical impact of the NKp30 B7 H6 axis in high risk neuroblastoma patients By Michaela Semeraro Sylvie Rusakiewicz Véronique Minard Colin Nicolas F Delahaye David Enot Frédéric Vély Aurélien Marabelle Benjamin Papoular Christelle Piperoglou Mirco Ponzoni Patrizia Perri Andrei Tchirkov Jessica Matta Valérie Lapierre Tala Shekarian Sandrine Valsesia Wittmann Frédéric Commo Nicole Prada Vichnou Poirier Colame Brigitte Bressac Sophie Cotteret Laurence Brugieres Françoise Farace Nathalie Chaput Guido Kroemer Dominique Valteau Couanet Laurence Zitvogel Science Translational Medicine 15 Apr 2015 283ra55 Natural killer cell activity and NKp30 B7 H6 interaction are prognostic biomarkers in high risk neuroblastoma patients Editor s Summary Abstract Full Text PDF Review The emerging field of mobile health By Steven R Steinhubl Evan D Muse Eric J Topol Science Translational Medicine 15 Apr 2015 283rv3 Mobile technologies can transform clinical research and health care worldwide and save money Abstract Full Text PDF Editors Choice Of obese mice and monkeys Protective effects of PI3K inhibition By Jessica A Alvarez Science Translational Medicine 15 Apr 2015 283ec61 Inhibiting PI3K signaling in obese mice and rhesus monkeys safely reduced adiposity and metabolic abnormalities Full Text Beating BRAF resistance By Sam Behjati Science Translational Medicine 15 Apr 2015 283ec62 A sequencing study defines resistance mechanisms to BRAF inhibition in colorectal tumors and reveals a possible Achilles heel Full Text Shaping up nicely By Kara L Spiller Science Translational Medicine 15 Apr 2015 283ec63 Sophisticated imaging reveals that the shape of implanted biomaterials determines their ability to support blood vessel growth Full Text Singled out Profiling metabolic and proteomic

    Original URL path: http://stm.sciencemag.org/content/7/283 (2016-02-10)
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  • Table of Contents — April 15, 2015, 7 (283) | Science Translational Medicine
    By Juan Fu David B Kanne Meredith Leong Laura Hix Glickman Sarah M McWhirter Edward Lemmens Ken Mechette Justin J Leong Peter Lauer Weiqun Liu Kelsey E Sivick Qi Zeng Kevin C Soares Lei Zheng Daniel A Portnoy Joshua J Woodward Drew M Pardoll Thomas W Dubensky Jr Young Kim Science Translational Medicine 15 Apr 2015 283ra52 Cyclic dinucleotide formulated cancer vaccine combined with PD 1 blockade can induce regression of tumors that do not express PD L1 constitutively Editor s Summary Abstract Full Text PDF Personalized genomic analyses for cancer mutation discovery and interpretation By Siân Jones Valsamo Anagnostou Karli Lytle Sonya Parpart Li Monica Nesselbush David R Riley Manish Shukla Bryan Chesnick Maura Kadan Eniko Papp Kevin G Galens Derek Murphy Theresa Zhang Lisa Kann Mark Sausen Samuel V Angiuoli Luis A Diaz Jr Victor E Velculescu Science Translational Medicine 15 Apr 2015 283ra53 Analysis of matched tumor and normal DNA from the same patient improves accuracy of identification of actionable mutations allowing better targeting of potential treatments Editor s Summary Abstract Full Text PDF Clonal status of actionable driver events and the timing of mutational processes in cancer evolution By Nicholas McGranahan Francesco Favero Elza C de Bruin Nicolai Juul Birkbak Zoltan Szallasi Charles Swanton Science Translational Medicine 15 Apr 2015 283ra54 Pan cancer analysis of tumor subclonal structures uncovers widespread intratumor heterogeneity in actionable driver events and reveals mutational processes fueling their selection Editor s Summary Abstract Full Text PDF Clinical impact of the NKp30 B7 H6 axis in high risk neuroblastoma patients By Michaela Semeraro Sylvie Rusakiewicz Véronique Minard Colin Nicolas F Delahaye David Enot Frédéric Vély Aurélien Marabelle Benjamin Papoular Christelle Piperoglou Mirco Ponzoni Patrizia Perri Andrei Tchirkov Jessica Matta Valérie Lapierre Tala Shekarian Sandrine Valsesia Wittmann Frédéric Commo Nicole Prada Vichnou Poirier Colame Brigitte Bressac Sophie Cotteret Laurence Brugieres Françoise Farace Nathalie Chaput Guido Kroemer Dominique Valteau Couanet Laurence Zitvogel Science Translational Medicine 15 Apr 2015 283ra55 Natural killer cell activity and NKp30 B7 H6 interaction are prognostic biomarkers in high risk neuroblastoma patients Editor s Summary Abstract Full Text PDF Review The emerging field of mobile health By Steven R Steinhubl Evan D Muse Eric J Topol Science Translational Medicine 15 Apr 2015 283rv3 Mobile technologies can transform clinical research and health care worldwide and save money Abstract Full Text PDF Editors Choice Of obese mice and monkeys Protective effects of PI3K inhibition By Jessica A Alvarez Science Translational Medicine 15 Apr 2015 283ec61 Inhibiting PI3K signaling in obese mice and rhesus monkeys safely reduced adiposity and metabolic abnormalities Full Text Beating BRAF resistance By Sam Behjati Science Translational Medicine 15 Apr 2015 283ec62 A sequencing study defines resistance mechanisms to BRAF inhibition in colorectal tumors and reveals a possible Achilles heel Full Text Shaping up nicely By Kara L Spiller Science Translational Medicine 15 Apr 2015 283ec63 Sophisticated imaging reveals that the shape of implanted biomaterials determines their ability to support blood vessel growth Full Text Singled out Profiling metabolic and

    Original URL path: http://stm.sciencemag.org/content/7/283.toc (2016-02-10)
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  • Translational Medicine PG 283ra53 283ra53 VI 7 IP 283 4099 http stm sciencemag org content 7 283 283ra53 short 4100 http stm sciencemag org content 7 283 283ra53 full AB Massively parallel sequencing approaches are beginning to be used clinically to characterize individual patient tumors and to select therapies based on the identified mutations A major question in these analyses is the extent to which these methods identify clinically actionable alterations and whether the examination of the tumor tissue alone is sufficient or whether matched normal DNA should also be analyzed to accurately identify tumor specific somatic alterations To address these issues we comprehensively evaluated 815 tumor normal paired samples from patients of 15 tumor types We identified genomic alterations using next generation sequencing of whole exomes or 111 targeted genes that were validated with sensitivities gt 95 and gt 99 respectively and specificities gt 99 99 These analyses revealed an average of 140 and 4 3 somatic mutations per exome and targeted analysis respectively More than 75 of cases had somatic alterations in genes associated with known therapies or current clinical trials Analyses of matched normal DNA identified germline alterations in cancer predisposing genes in 3 of patients with

    Original URL path: http://stm.sciencemag.org/highwire/citation/196199/medlars (2016-02-10)
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  • YR 2015 FD American Association for the Advancement of Science VO 7 IS 283 SP 283ra53 OP 283ra53 DO 10 1126 scitranslmed aaa7161 UL http stm sciencemag org content 7 283 283ra53 abstract AB Massively parallel sequencing approaches are beginning to be used clinically to characterize individual patient tumors and to select therapies based on the identified mutations A major question in these analyses is the extent to which these methods identify clinically actionable alterations and whether the examination of the tumor tissue alone is sufficient or whether matched normal DNA should also be analyzed to accurately identify tumor specific somatic alterations To address these issues we comprehensively evaluated 815 tumor normal paired samples from patients of 15 tumor types We identified genomic alterations using next generation sequencing of whole exomes or 111 targeted genes that were validated with sensitivities 95 and 99 respectively and specificities 99 99 These analyses revealed an average of 140 and 4 3 somatic mutations per exome and targeted analysis respectively More than 75 of cases had somatic alterations in genes associated with known therapies or current clinical trials Analyses of matched normal DNA identified germline alterations in cancer predisposing genes in 3 of patients

    Original URL path: http://stm.sciencemag.org/highwire/citation/196199/refworks (2016-02-10)
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