10 research outputs found
Bacteria tracking by in vivo magnetic resonance imaging
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 21/02/2014
- Field of study
Background: Different non-invasive real-time imaging techniques have been developed over the last decades to study bacterial pathogenic mechanisms in mouse models by following infections over a time course. In vivo investigations of bacterial infections previously relied mostly on bioluminescence imaging (BLI), which is able to localize metabolically active bacteria, but provides no data on the status of the involved organs in the infected host organism. In this study we established an in vivo imaging platform by magnetic resonance imaging (MRI) for tracking bacteria in mouse models of infection to study infection biology of clinically relevant bacteria. Results: We have developed a method to label Gram-positive and Gram-negative bacteria with iron oxide nano particles and detected and pursued these with MRI. The key step for successful labeling was to manipulate the bacterial surface charge by producing electro-competent cells enabling charge interactions between the iron particles and the cell wall. Different particle sizes and coatings were tested for their ability to attach to the cell wall and possible labeling mechanisms were elaborated by comparing Gram-positive and -negative bacterial characteristics. With 5-nm citrate-coated particles an iron load of 0.015 ± 0.002 pg Fe/bacterial cell was achieved for Staphylococcus aureus. In both a subcutaneous and a systemic infection model induced by iron-labeled S. aureus bacteria, high resolution MR images allowed for bacterial tracking and provided information on the morphology of organs and the inflammatory response. Conclusion: Labeled with iron oxide particles, in vivo detection of small S. aureus colonies in infection models is feasible by MRI and provides a versatile tool to follow bacterial infections in vivo. The established cell labeling strategy can easily be transferred to other bacterial species and thus provides a conceptual advance in the field of molecular MRI.<br
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
- Bradly G Wouters
- Brandi N Davis-Dusenbery
- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
- Cameron M Soulette
- Carl Herrmann
- Carl Morrison
- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
- Daniel J Weisenberger
- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
- David Haussler
- David Hedley
- David Huntsman
- David I Heiman
- David J Adams
- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
- David R Jones
- David R Jones
- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
- David Torrents
- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Heidi Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
- Ian J Davis
- Ian Welch
- Ignacio Vázquez-García
- Ignaty Leshchiner
- Ignaty Leshchiner
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivica Letunic
- Ivo Buchhalter
- Ivo Buchhalter
- Ivo G Gut
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
- J Robert O'Neill
- J Todd Auman
- Jaclyn Smith
- Jacqueline Boultwood
- Jacqueline E Schein
- Jaegil Kim
- Jake June-Koo Lee
- Jakob Skou Pedersen
- Jakob Skou Pedersen
- James E Haber
- James G Kench
- James Gossage
- James S Wilmott
- Jan Komorowski
- Jan O Korbel
- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
- Jared T Simpson
- Jason Huse
- Jaswinder S Samra
- Javier Bartolome
- Javier Bartolomé Rodriguez
- Javier Temes
- Jean C Zenklusen
- Jean Y Yang
- Jean-Rémi Trotta
- Jeffrey A Wintersinger
- Jeffrey Boyd
- Jeffrey E Gershenwald
- Jeffrey Marks
- Jeffrey Roach
- Jenna Eagles
- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
- Jeremiah A Wala
- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
- Jingchun Zhu
- Joachim Weischenfeldt
- Joachim Weischenfeldt
- Joan Frigola
- Joana Carlevaro-Fita
- Jocelyne Jacquemier
- Joel S Parker
- Johan Staaf
- Johann S De Bono
- Johanna Bertl
- Johannes Werner
- Johannes Werner
- John A Demchok
- John A Foekens
- John Bartlett
- John Busanovich
- John D McPherson
- John F Thompson
- John Letaw
- John N Weinstein
- John N Weinstein
- John R McPherson
- John V Pearson
- John W M Martens
- Jon G Jonasson
- Jon W Teague
- Jon W Teague
- Jonas Demeulemeester
- Jonathan Barenboim
- Jonathan Cebon
- Jonathan D Kay
- Jonathan Göke
- Jonathan Hinton
- Jonathan Hinton
- Jonathan Nicholson
- Jonathan R Stretch
- Jonathan Spring
- Jonathan Warrell
- Jong K Kim
- Jongsun Jung
- Jongsun Jung
- Jongwhi H Hong
- Joong-Won Park
- Jordi Deu-Pons
- Jorge Reis-Filho
- Jorge Zamora
- Jorunn E Eyfjord
- Jos Jonkers
- Jose I Martin-Subero
- Jose M C Tubio
- Jose M G Izarzugaza
- Josep L L Gelpi
- Josep L L Gelpi
- Joshua Armenia
- Joshua M Stuart
- Joshua M Stuart
- Joshy George
- José María Heredia-Genestar
- Joy C Jayaseelan
- Juergen Eils
- Juhee Lee
- Jules N A Kerssemakers
- Julia Markowski
- Julia Richter
- Julian M Hess
- Julian M Hess
- Julian M Hess
- Juliann Shih
- Julie Livingstone
- Julie M Wilson
- Jun Li
- Jun Yu
- Jung Kyoon Choi
- Junjun Zhang
- Junjun Zhang
- Juok Cho
- Juris Viksna
- Justin P Whalley
- Jyoti Nangalia
- Jörg Tost
- Jüri Reimand
- K Vijay Raghavan
- Kadir C Akdemir
- Kai Ye
- Kai Ye
- Kai Ye
- Kaixian Yu
- Kami Chiotti
- Kamna Ramakrishnan
- Kaoru Nakano
- Karen McCune
- Karen Mungall
- Karen Smith-McCune
- Karin A Oien
- Karin S Kassahn
- Karine Jegalian
- Karolina Czajka
- Karsten Rippe
- Katalin Karaszi
- Katarzyna O Sikora
- Katayoon Kasaian
- Katayoon Kasaian
- Katherine A Hoadley
- Kathleen H Burns
- Kathleen Marchal
- Kathryn Alsop
- Katia Nones
- Kazuaki Chayama
- Kazuhiro Maejima
- Kazuhiro Ohi
- Ke Yuan
- Keiran M Raine
- Keiran M Raine
- Keith A Boroevich
- Kelso Sean
- Ken Chen
- Ken Chen
- Ken Dutton-Regester
- Kenji Tatsuno
- Kenneth Aldape
- Keren Isaev
- Kerstin Haase
- Keun Soo Ahn
- Keunchil Park
- Kevin J Dawson
- Kevin Thai
- Kiejung Park
- Kin Chan
- Kiran Kumar
- Kirsten Kübler
- Kiyo Shimizu
- Kjong-Van Lehmann
- Klev Diamanti
- Koji Arihiro
- Koo Jeong Kang
- Kortine Kleinheinz
- Kortine Kleinheinz
- Kristian Cibulskis
- Kuan-Lin Huang
- Kui Wu
- Kunihito Gotoh
- Kwun M Fong
- Kyle Covington
- Kyle Covington
- Kyle Ellrott
- Kyle Ellrott
- Kyle Ellrott
- L Van't Veer
- Lara Jerman
- Lara Urban
- Lars Feuerbach
- Larsson Omberg
- Laura Planko
- Laurence B Lovat
- Laurent Arnould
- Lauri A Aaltonen
- Lawrence E Heisler
- Layla Oesper
- Lee E Timms
- Lei Song
- Leigh B Thorne
- Leng Han
- Leonidas Salichos
- Leslie Cope
- Leszek J Klimczak
- Levi Garraway
- Lewis Jonathan Dursi
- Lewis Jonathan Dursi
- Lewis R Roberts
- Li Ding
- Li Ding
- Li Ding
- Li Shantao
- Liang Wen-Wei
- Liangtao Zheng
- Lieven P C Verbeke
- Lihua Zou
- Liis Uusküla-Reimand
- Liliana Greger
- Liming Yang
- Lin Li
- Lina Sieverling
- Lina Wadi
- Lincoln D Stein
- Linda Mileshkin
- Linghua Wang
- LiRehan Akbani
- Lisa Lype
- Lisa Mirabello
- Lisle E Mose
- Liu Xi
- Liu Xi
- Lixing Yang
- Lora Lewis
- Lorenz H P Trümper
- Loretta M S Lau
- Lori Boice
- Loris Mularoni
- Lorraine A Chantrill
- Louis Letourneau
- Luc Dirix
- Luca Landoni
- Luca Malcovati
- Lucas Lochovsky
- Lucila Ohno-Machado
- Lucinda A Fulton
- Lucy Matthews
- Lucy Stebbings
- Lucy Stebbings
- Lucy Yates
- Ludmil B Alexandrov
- Ludmila Danilova
- Luisa Mantovani-Löffler
- Luke Marsden
- Maciej Wiznerowicz
- Malcolm Brock
- Malcolm J Moore
- Malene Juul
- Malik Alawi
- Mamoru Kato
- Manasa Ramakrishna
- Manaswi Gupta
- Manolis Kellis
- Manuel Prinz
- Mara Rosenberg
- Marat D Kazanov
- Marc D Perry
- Marc D Perry
- Marc J van de Vijver
- Marc Zapatka
- Marcel Kool
- Marcel Smid
- Marcin Imielinski
- Marco A Marra
- Marco Miotto
- Marcus Bosenberg
- Marek Cmero
- Maria Elisabeth Goebler
- Maria Keays
- Maria O'Donovan
- Maria Scardoni
- Maria Vittoria Davi
- Marie-Laure Yaspo
- Marina Pajic
- Mario Berrios
- Mario Cazzola
- Marius Rohde
- Mark A Rubin
- Mark B Gerstein
- Mark B Gerstein
- Mark H Wright
- Mark Lathrop
- Mark P Hamilton
- Mark Phillips
- Mark Pinese
- Mark Shackleton
- Markus B Schilhabel
- Markus Kreuz
- Markus Loeffler
- Markus Ringnér
- Marta Aymerich
- Marta Gut
- Marta Paczkowska
- Marta Tojo
- Martin Hansmann
- Martin L Ferguson
- Martin Peifer
- Mary J Goldman
- Masakazu Yamamoto
- Masaki Ueno
- Masashi Fujita
- Masashi Fukayama
- Matteo Fassan
- Matthew A Field
- Matthew A Reyna
- Matthew D Wilkerson
- Matthew Eldridge
- Matthew G Cordes
- Matthew G Soloway
- Matthew H Bailey
- Matthew H Bailey
- Matthew H Bailey
- Matthew J Anderson
- Matthew Meyerson
- Matthew R Huska
- Matthew Ringel
- Matthew W Fittall
- Matthias Bieg
- Matthias Bieg
- Matthias Schlesner
- Matthias Schlesner
- Mattia Bosio
- Maxime Tarabichi
- Maximillian G Marin
- Mayuko Furuta
- Mei Huang
- Melpomeni Kasapi
- Meyerson William U
- Mi Ni Huang
- Mia Nastic
- Michael A Hollingsworth
- Michael Birrer
- Michael C Heinold
- Michael C Heinold
- Michael C Quinn
- Michael C Wendl
- Michael C Wendl
- Michael D McLellan
- Michael D McLellan
- Michael D McLellan
- Michael Dunn
- Michael Fraser
- Michael H A Roehrl
- Michael Hummel
- Michael Ittmann
- Michael Kneba
- Michael Koscher
- Michael Mayo
- Michael R Stratton
- Michael S Lawrence
- Michael S Noble
- Michele Milella
- Michele Simbolo
- Michelle Chan-Seng-Yue
- Michelle Sam
- Michelle T Dow
- Miguel Betancourt
- Miguel Vazquez
- Mihoko Saito-Adachi
- Milana Frenkel-Morgenstern
- Milena Kovacevic
- Ming Ta Michael Lee
- Ming Tsao
- Miranda D Stobbe
- Miranda D Stobbe
- Miriam R Aure
- Miruna Balasundaram
- Mitsuhiro Komura
- Mohamed Helmy
- Mohammed Ghori
- Moiz S Bootwalla
- Monika Szczepanowski
- Monique Albert
- Montserrat Puiggròs
- Montserrat Puiggròs
- Morgan L Taschuk
- Moritz Gerstung
- Morten Muhlig Nielsen
- Morten Muhlig Nielsen
- Murat Iskar
- Myron Peto
- Myron Peto
- Nadia Traficante
- Nagarajan Paramasivam
- Nagarajan Paramasivam
- Naoki Miyoshi
- Naomi Livni
- Naoto T Ueno
- Narong Khuntikeo
- Nasa Sinnott-Armstrong
- Nasra H Giama
- Natalie Jäger
- Natalie Jäger
- Natalie R Davidson
- Natalie S Fox
- Natalie Saini
- Nathan A Pennell
- Natsuko Hama
- Naveen Vasudev
- Nebojsa Tijanic
- Neesha C Dhani
- Neil D Merrett
- Neil E Fleshner
- Nening M Dennis
- Niall J Byrne
- Nic Jones
- Nicholas D Socci
- Nicholas J Haradhvala
- Nicholas K Hayward
- Nicholas Petrelli
- Nicholas van As
- Nick M Waddell
- Nicola D Roberts
- Nicola Grehan
- Nicola Sperandio
- Nicola Waddell
- Nicole Cloonan
- Nidhan K Biswas
- Niedzica Camacho
- Nigel B Jamieson
- Nikita Desai
- Nikolajs Zeps
- Nikolaus Schultz
- Nikos Sidiropoulos
- Nilanjan Chatterjee
- Nilgun Donmez
- Nils Gehlenborg
- Nimish C Shah
- Nina Habermann
- Nina Thiessen
- Nischalan Pillay
- Nishant Agrawal
- Nobuyoshi Hiraoka
- Nodirjon Fayzullaev
- Noreen Dhalla
- Nuno A Fonseca
- Ofer Shapira
- Ola Myklebost
- Ole Ammerpohl
- Ole Christian Lingjærde
- Olga Potapova
- Olga Tucker
- Olga Zaikova
- Oliver Drechsel
- Oliver Drechsel
- Oliver F Bathe
- Oliver Hofmann
- Oliver Holmes
- Oliver Spiro
- Oliver Stegle
- Olivier Delaneau
- Olivier Harismendy
- Oriol Pich
- P Andrew Futreal
- Pablo Landgraf
- Paolo Pederzoli
- Pardeep Kumar
- Paresh Vyas
- Partha P Majumder
- Patrick D McGillivray
- Patrick Tan
- Patrick Tarpey
- Paul A Edwards
- Paul A Northcott
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- Philip Awadalla
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- Reanne Bowlby
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- Reyka Jayasinghe
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- Rich Boyce
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- Richard A Moore
- Richard A Scolyer
- Richard F Kefford
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- Rita T Lawlor
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- Robert A Holt
- Robert C Grant
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- Robert G Bristow
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- Sebastian M Waszak
- Seiya Imoto
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- Stephen B Baylin
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- Susan Bullman
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- Venkata D Yellapantula
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- Xavier Pivot
- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Zeit für Kuscheltiere
- Publication venue
- 'Georg Thieme Verlag KG'
- Publication date
- Field of study
Immunohistochemical Localization of Angiotensin-Converting Enzyme, Angiotensin II and AT1 Receptor in Human Ocular Tissues
- Author
- Publication venue
- 'S. Karger AG'
- Publication date
- Field of study
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
- Andreas Behren
- Andreas Rosenwald
- Andreia V Pinho
- Andrew Berchuck
- Andrew D Cherniack
- Andrew J Dunford
- Andrew J Mungall
- Andrew J Spillane
- Andrew Menzies
- Andrew Menzies
- Andrew P Barbour
- Andrew Tutt
- Andrew V Biankin
- Andrey Korshunov
- Andrés Lanzós
- Andy Cafferkey
- Andy G Lynch
- Angela Chou
- Angela N Brooks
- Angela Tam
- Angelica Ochoa
- Angelika N Christ
- Angelo P Dei Tos
- Anieta M Sieuwerts
- Anil K Sood
- Anita Langerød
- Anja Füllgrabe
- Anke K Bergmann
- Ann-Marie Patch
- Anna deFazio
- Anna Ehinger
- Anna Fitzgerald
- Anne Hamilton
- Anne Vincent-Salomon
- Anne Y Warren
- Anne-Lise Børresen-Dale
- Annegien Broeks
- Anthony DiBiase
- Anthony J Gill
- Anthony Ng
- Anthony R Green
- Antonia L Pritchard
- Antonio Pea
- Antonios Koures
- Aparna Prasad
- Apurva M Hegde
- Aquila Fatima
- Arcadi Navarro
- Arie B Brinkman
- Arif O Harmanci
- Arindam Maitra
- Armando Lopez-Guillermo
- Arndt Borkhardt
- Arnoud Boot
- Asger Hobolth
- Ashley Williams
- Ashton A Connor
- Atul J Butte
- Aurélien Chateigner
- Austin J Hepperla
- Axel Aretz
- Aya Sasaki-Oku
- Ayellet V Segre
- B F Francis Ouellette
- Bailey Matthew H
- Barbara Hutter
- Barbara Hutter
- Barbara Kremeyer
- Bartha M Knoppers
- Beifang Niu
- Beifang Niu
- Beifang Niu
- Benedikt Brors
- Benita Kiat Tee Tan
- Benjamin J Raphael
- Benjamin P Berman
- Benjamin Raeder
- Bernardo Rodriguez-Martin
- Bernhard Radlwimmer
- Bernice H Wong
- Beth Karlan
- Bin Tean Teh
- Bin Zhu
- Birgit Burkhardt
- Bishoy M Faltas
- Bodil Bjerkehagen
- Bogdan Czerniak
- Boris Winterhoff
- Borislav C Rusev
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- Brian Craft
- Brian D O'Connor
- Brian Patrick O'Neill
- Brice Aminou
- Calvin Wing Yiu Chan
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- Carl Herrmann
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- Carlo Gambacorti-Passerini
- Carlos Caldas
- Carlos D Bustamante
- Carlos López-Otín
- Carlota Rubio-Perez
- Carmen Gomez
- Carolien H M van Deurzen
- Carolyn M Hutter
- Carolyn M Hutter
- Carrie Cibulskis
- Caterina Vicentini
- Catherine A Shang
- Catherine D Moser
- Catherine J Kennedy
- Catrina C Fronick
- Chad J Creighton
- Chandra Sekhar Pedamallu
- Chang Li
- Charles David Imbusch
- Charles M Perou
- Charles Saller
- Charles Short
- Charlie E Massie
- Chawalit Pairojkul
- Chen Hong
- Chen Ye
- Cheng-Zhong Zhang
- Chin-Lee Wu
- Chip Stewart
- Chip Stewart
- Chip Stewart
- Choon Kiat Ong
- Chris Lawerenz
- Chris Mitchell
- Chris Sander
- Christian von Mering
- Christiane Buchholz
- Christina K Yung
- Christina K Yung
- Christina Yau
- Christine A Iacobuzio-Donahue
- Christine Chomienne
- Christine Desmedt
- Christine P'ng
- Christof von Kalle
- Christoph Borst
- Christoph Plass
- Christopher A Miller
- Christopher Benz
- Christopher J Scarlett
- Christopher J Yoon
- Christopher K Wong
- Christopher M Lalansingh
- Christopher M Lalansingh
- Christopher Ogden
- Christopher S Foster
- Christopher Umbricht
- Christopher W Toon
- Christos Sotiriou
- Cindy Bell
- Cinzia Cantù
- Ciyue Shen
- Claes Wadelius
- Clare Verrill
- Clarissa Gerhauser
- Claudia Calabrese
- Claudio Bassi
- Claudio Luchini
- Claudiu Farcas
- Clemency Jolly
- Colin A Purdie
- Colin A Semple
- Colin C Collins
- Colin S Cooper
- Conrad R Leonard
- Constance H Li
- Corbin D Jones
- Craig Shriver
- Cristina López
- Cyriac Kandoth
- Cyril Fisher
- D Neil Hayes
- Dai-Ying Wu
- Daiming Fan
- Daisuke Komura
- Dale W Garsed
- Daniel A Leongamornlert
- Daniel Baumhoer
- Daniel Hübschmann
- Daniel J Turner
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- Daniel M Berney
- Daniel Rosebrock
- Daniel S Brewer
- Daniela S Gerhard
- Danielle Pasternack
- Darell Bigner
- Dariush Etemadmoghadam
- Darlene Lee
- Darrin F Taylor
- Dave Larson
- David A Wheeler
- David A Wheeler
- David C Wedge
- David Craft
- David D L Bowtell
- David E Neal
- David Haan
- David Haussler
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- David Huntsman
- David I Heiman
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- David J Van Den Berg
- David K Chang
- David K Miller
- David Khoo
- David Mutch
- David N Louis
- David Nicol
- David Ocana
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- David Scott
- David T Bowen
- David T W Jones
- David Tamborero
- David Torrents
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- David Townend
- David Vicente
- Davide Antonello
- Declan Cahill
- Denis Larsimont
- Denis Yuen
- Denise Brooks
- Deniz Demircioğlu
- Dennis C Sgroi
- Dennis Karsch
- Dennis T Maglinte
- Dennis Wigle
- Derek W Wright
- Dianne E Chadwick
- Dido Lenze
- Dieter Kube
- Dieter Weichenhan
- Dilip D Giri
- Dimitri Livitz
- Dimitri Livitz
- Dimple Chakravarty
- Ding
- Dirk Schadendorf
- Dmitry A Gordenin
- Dominik Glodzik
- Don Chalmers
- Dong Guanlan
- Dongbing Liu
- Donghoon Lee
- Donghui Tan
- Donna M Muzny
- Dorthe Grabau
- Douglas A Levine
- Douglas F Easton
- Douglas Voet
- Duncan Beardsmore
- Dursi Lewis Jonathan
- Edward W Rowe
- Eigo Shimizu
- Ekta Khurana
- Elaine R Mardis
- Electron Kebebew
- Elena Piñeiro-Yáñez
- Elena Provenzano
- Elias Campo
- Elisabet Barrera
- Elisabetta Sereni
- Elizabeth A Musgrove
- Elizabeth L Appelbaum
- Elizabeth L Christie
- Elli Papaemmanuil
- Ellrott Kyle
- Emilie Lalonde
- Eoghan Harrington
- Eric Chuah
- Eric Green
- Eric Lander
- Eric Minwei Liu
- Eric Z Ma
- Eric Z Ma
- Erik Garrison
- Erik Larsson
- Erik Mayer
- Erik N Bergstrom
- Erin Curley
- Ermin Hodzic
- Erwin G Van Meir
- Esa Pitkänen
- Esther Rheinbay
- Esther Rheinbay
- Eun Pyo Hong
- Eunjung Alice Lee
- Eva G Alvarez
- Eva Hellstrom-Lindberg
- Ewan Birney
- F Germán Rodríguez-González
- Fabien C Lamaze
- Fabien Calvo
- Fabio C P Navarro
- Faiyaz Notta
- Fan Yang
- Fan Zhang
- Faraz Hach
- Faraz Hach
- Faridah Mbabaali
- Fatima Al-Shahrour
- Federico Abascal
- Fei-Fei Liu
- Felicity Newell
- Fenglin Liu
- Fernanda Amary
- Ferran Muiños
- Florian Markowetz
- Fouad Yousif
- Francesc Muyas
- Francesco Favero
- Francisco M De La Vega
- Francisco Sanchez-Vega
- Fraser R Duthie
- Fred Sweep
- Freddie C Hamdy
- Fruzsina Molnár-Gábor
- Fumie Hosoda
- G Petur Nielsen
- G Steven Bova
- Gad Getz
- Gad Getz
- Gad Getz
- Gaetan MacGrogan
- Gaetano Finocchiaro
- Gary D Bader
- Gavin Ha
- Gavin W Wilson
- Genta Nagae
- Geoff Macintyre
- George B Hanna
- George L Mihaiescu
- Georgia Escaramis
- Georgina V Long
- Gerd Nettekoven
- German M Demidov
- German Ott
- Gerrit K Hooijer
- Gerstein Mark B
- Gert G Van den Eynden
- Getz Gad
- Ghislaine Scelo
- Giada Bonizzato
- Giampaolo Tortora
- Gilles Romieu
- Gilles Thomas
- Giovanni Marchegiani
- Gisela Mir Arnau
- Giuseppe Malleo
- Gloria M Petersen
- Gordon B Mills
- Gordon B Mills
- Gordon Saksena
- Gordon Saksena
- Gordon Saksena
- Grace Tiao
- Grace Tiao
- Graham J Mann
- Grant Sanders
- Gu Kong
- Guanming Wu
- Guido Reifenberger
- Guido Sauter
- Guillaume Bourque
- Gulietta M Pupo
- Gun Ho Jang
- Gunes Gundem
- Gunnar Rätsch
- Gurnit Atwal
- Hailei Zhang
- Haiyan Irene Li
- Han Liang
- Hana Susak
- Hans Binder
- Hans Lehrach
- Hans-Jörg Warnatz
- Hardeep K Nahal-Bose
- Hark Kyun Kim
- HarshaVardhan Doddapaneni
- Hartmut Juhl
- Harvey Pass
- Hayley C Whitaker
- Hayley J Luxton
- Hazel Burke
- Heather K Schmidt
- Heather Thorne
- Hee Jin Lee
- Heidi J Sofia
- Heidi Sofia
- Helen Davies
- Helena Kilpinen
- Helene Kretzmer
- Heng Xiong
- Henk G Stunnenberg
- Henrik Hornshøj
- Henry Lee-Six
- Hideki Ohdan
- Hidenori Ojima
- Hidewaki Nakagawa
- Hikmat Al-Ahmadie
- Hilda A Pickett
- Hirofumi Rokutan
- Hirokazu Taniguchi
- Hiroki Yamaue
- Hiroko Tanaka
- Hiromi Nakamura
- Hiroshi Aikata
- Hiroto Katoh
- Hiroyuki Aburatani
- Hitoshi Katai
- Hitoshi Nakagama
- Hojabr Kakavand
- Holger Sültmann
- Holmfridur Hilmarsdottir
- Hong Su
- Hong Xue
- Hong Xue
- Hongtu Zhu
- Hongwei Zhang
- Hongxin Zhang
- Hsiao-Wei Chen
- Huanming Yang
- Hugh Barr
- Hui Shen
- Husen M Umer
- Huy Q Dinh
- Hyung-Lae Kim
- Hyung-Lae Kim
- Hyung-Yong Kim
- Hyunghwan Kim
- Ian J Davis
- Ian Welch
- Ignacio Vázquez-García
- Ignaty Leshchiner
- Ignaty Leshchiner
- Ignaty Leshchiner
- Iker Reyes-Salazar
- Ilinca Lungu
- Ilse Rooman
- Ilya Shmulevich
- Iman Sarrafi
- Iman Sarrafi
- Ina Felau
- Ioana Cutcutache
- Irene Papatheodorou
- Irinel Popescu
- Iris Pauporté
- Iris Selander
- Isabelle Treilleux
- Isidro Cortés-Ciriano
- Ivan Borozan
- Ivana Cataldo
- Ivica Letunic
- Ivica Letunic
- Ivo Buchhalter
- Ivo Buchhalter
- Ivo G Gut
- Ivo G Gut
- Ivon Harliwong
- Izar Villasante
- Iñigo Martincorena
- J Lynn Fink
- J Robert O'Neill
- J Todd Auman
- Jaclyn Smith
- Jacqueline Boultwood
- Jacqueline E Schein
- Jaegil Kim
- Jake June-Koo Lee
- Jakob Skou Pedersen
- Jakob Skou Pedersen
- James E Haber
- James G Kench
- James Gossage
- James S Wilmott
- Jan Komorowski
- Jan O Korbel
- Janae V Simons
- Jane E Brock
- Janet S Graham
- Janet S Rader
- Jared T Simpson
- Jared T Simpson
- Jason Huse
- Jaswinder S Samra
- Javier Bartolome
- Javier Bartolomé Rodriguez
- Javier Temes
- Jean C Zenklusen
- Jean Y Yang
- Jean-Rémi Trotta
- Jeffrey A Wintersinger
- Jeffrey Boyd
- Jeffrey E Gershenwald
- Jeffrey Marks
- Jeffrey Roach
- Jenna Eagles
- Jennifer L Jennings
- Jeong-Yeon Lee
- Jeremiah A Wala
- Jeremiah A Wala
- Jeremy Chien
- Jeremy Johns
- Jerome Myers
- Jesper Lagergren
- Jessica I Hoell
- Jessica K Miller
- Ji Wan Park
- Jia Liu
- Jian Wang
- Jianhong Hu
- Jianjiong Gao
- Jianmin Wu
- Jiashan Zhang
- Jiayin Wang
- Jiayin Wang
- Jieming Chen
- Jihoon Kim
- Jill Barnholtz-Sloan
- Jillian A Hung
- Jing Zhang
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- Vincenzo Corbo
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- Wan Choi
- Wanding Zhou
- Wang Liang-Bo
- Weerasinghe Amila
- Wei Jiao
- Wendl Michael C
- Wenyi Wang
- Wenyi Wang
- Wenyi Wang
- Wheeler David A
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- Winghing Wong
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- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Publication date
- 01/01/2020
- Field of study
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that -80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAFPeer reviewe
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
- Bustamante Carlos D.
- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
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- Zhou Yong
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 21/09/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Zur Versorgungssituation und konservativen Therapie des okulären vernarbenden Schleimhautpemphigoids in Deutschland
- Author
- Al Nawaiseh Sami (Dr. med.)
- Besgen Volker (Dr. med.)
- Dick Burkhard (Prof. Dr. med.)
- Fuest Matthias (Dr. med. habil.)
- Geerling Gerd (Prof. Dr. med.)
- Girbardt Christian (Dr. med.)
- Hampel Ulrike (PD Dr. med.)
- Heichel Jens (Dr. med.)
- Heiligenhaus Arnd (Prof. Dr. med.)
- Herwig-Carl Martina Christina (Prof. Dr. med.)
- Jürgens Lukas (Dr. med.)
- Kakkassery Vinodh (Prof. Dr. med.)
- Kontopoulou Kalliopi (Dr. med.)
- Löffler Karin U. (Prof. Dr. med.)
- Maier Philip Christian (Prof. Dr. med.)
- Nölle Bernhard (Dr. med.)
- Oterendorp Christian von (PD Dr. med.)
- Pach Johanna (Dr. med.)
- Paul Sebastian (Dr. med.)
- Pleyer Uwe (Prof. Dr. med.)
- Pöllmann Michael
- Roth Mathias (Dr. med.)
- Saeger Mark (Dr. med.)
- Schmidt Enno (Dr. med. Dr. phil.)
- Siebelmann Sebastian (Prof. Dr. med.)
- Sokolenko Ekatarina (Dr. med.)
- Strudel Lisa (Dr. med.)
- Stübiger Nicole (Prof. Dr. med.)
- Tarhan Melih (Dr. med.)
- Theuersbacher Johanna (Dr. med.)
- Walker Marten (Dr. med.)
- Wiecha Carolin (Dr. med.)
- Wykrota Agata Anna (Dr. med.)
- Yaïci Rémi
- Publication venue
- Publication date
- 03/03/2023
- Field of study
Hintergrund: Die okuläre Beteiligung bei vernarbendem Schleimhautpemphigoid (SHP) ist mit einer Prävalenz von 25 Fällen je 1 Mio. Einwohner und damit ca. 2100 Patienten in ganz Deutschland selten. Die Diagnosestellung kann – besonders in Abwesenheit anderer Beteiligungen – schwierig und die Therapie komplex und langwierig sein. Nicht selten kommen Immunsuppressiva zum Einsatz. Aufgrund der Komplexität von Diagnose und Therapie sind SHP-Patienten meist an entsprechend spezialisierte Zentren angebunden. Ziel dieses Projektes war die Erfassung der aktuellen augenärztlichen Versorgungssituation von Patienten mit SHP in Deutschland. Methoden: Eine papierbasierte Umfrage wurde konzipiert und im April 2020 an alle Universitätsaugenkliniken und weitere potenzielle Zentren versandt. Gefragt wurde nach dem Bestehen einer spezialisierten Sprechstunde, der jährlichen Gesamtzahl der betreuten Patienten, der jährlichen Anzahl von neu diagnostizierten Patienten, den klinischen Kooperationspartnern in Diagnostik und Therapie sowie nach der angewendeten lokalen und systemischen Therapie. Ergebnisse: Von insgesamt 44 angeschrieben Kliniken erfolgten 28 (64%) vollständige Rückmeldungen. Im Mittel werden in den Kliniken 27 ± 42 (0–200) Patienten betreut und jährlich pro Zentrum 3,6 ± 2,2 (0–10) neue Fälle diagnostiziert. Dies entspricht einer Gesamtpatientenzahl von 741 Patienten. Lediglich 9 (32%) der antwortenden Kliniken bieten eine spezialisierte SHP-Sprechstunde an. 93% der Zentren kooperieren mit der lokalen Klinik für Dermatologie. 79% führen die serologische und histologische Diagnostik intern durch. Etwa die Hälfte der Zentren (n = 16) wendet ein standardisiertes Therapieschema an. Systemisch werden Glukokortikoide (66,7%) am häufigsten verwendet, gefolgt von Mycophenolatmofetil und Dapson (57,1 %), Rituximab (33,3%), Azathioprin und Cyclophosphamid (28,6%) sowie Methotrexat (19,0%). Am seltensten werden i.v. Immunoglobuline eingesetzt (14,3 %).
Schlussfolgerung: Mit dieser Umfrage unter deutschen augenärztlichen Zentren wurden Daten von etwa einem Drittel der geschätzten Gesamtzahl aller in Deutschland an einem SHP erkrankten Menschen erhoben. Dabei handelt es sich vermutlich ausschließlich um Patienten mit mindestens einer okulären Beteiligung. Aktuell wird eine augenärztliche SHP-Registerstudie etabliert, um die Epidemiologie und Versorgungssituation besser zu erfassen und langfristig zu verbessern
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- Zeitschrift
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- Zini
- Zr
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- Zr
- £· Legros
- äo
- äo
- äänänen V.
- öhmann E.
- Ölbrich R.
- Über
- Über
- ücinaire
- Αίβηςοη
- λάμια χάσματα
- Οοηςαΐνββ Fl
- Publication venue
- 'Walter de Gruyter GmbH'
- Publication date
- 01/01/1957
- Field of study
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- Author
- Aaltonen Lauri A.
- Abascal Federico
- Abeshouse Adam
- Aburatani Hiroyuki
- Adams David J.
- Agrawal Nishant
- Ahn Keun Soo
- Ahn Sung-Min
- Aikata Hiroshi
- Akbani Rehan
- Akdemir Kadir C.
- Al-Ahmadie Hikmat
- Al-Sedairy Sultan T.
- Al-Shahrour Fatima
- Alawi Malik
- Albert Monique
- Aldape Kenneth
- Alexandrov Ludmil B.
- Ally Adrian
- Alsop Kathryn
- Alvarez Eva G.
- Amary Fernanda
- Amin Samirkumar B.
- Aminou Brice
- Ammerpohl Ole
- Anderson Matthew J.
- Ang Yeng
- Antonello Davide
- Anur Pavana
- Aparicio Samuel
- Appelbaum Elizabeth L.
- Arai Yasuhito
- Aretz Axel
- Arihiro Koji
- Ariizumi Shun-ichi
- Armenia Joshua
- Arnau Gisela Mir
- Arnould Laurent
- Asa Sylvia
- Assenov Yassen
- Atwal Gurnit
- Aukema Sietse
- Auman J. Todd
- Aure Miriam R.
- Awadalla Philip
- Aymerich Marta
- Bader Gary D.
- Baez-Ortega Adrian
- Bailey Matthew H.
- Bailey Peter J.
- Balasundaram Miruna
- Balu Saianand
- Bandopadhayay Pratiti
- Banks Rosamonde E.
- Barbi Stefano
- Barbour Andrew P.
- Barenboim Jonathan
- Barnholtz-Sloan Jill
- Barr Hugh
- Barrera Elisabet
- Bartlett John
- Bartolome Javier
- Bassi Claudio
- Bathe Oliver F.
- Baumhoer Daniel
- Bavi Prashant
- Baylin Stephen B.
- Bazant Wojciech
- Beardsmore Duncan
- Beck Timothy A.
- Behjati Sam
- Behren Andreas
- Bell Cindy
- Beltran Sergi
- Benz Christopher
- Berchuck Andrew
- Bergmann Anke K.
- Bergstrom Erik N.
- Berman Benjamin P.
- Berney Daniel M.
- Bernhart Stephan H.
- Beroukhim Rameen
- Berrios Mario
- Bersani Samantha
- Bertl Johanna
- Betancourt Miguel
- Bhandari Vinayak
- Bhosle Shriram G.
- Biankin Andrew V.
- Bieg Matthias
- Bigner Darell
- Bin Zhu
- Binder Hans
- Birney Ewan
- Birrer Michael
- Biswas Nidhan K.
- Bjerkehagen Bodil
- Bodenheimer Tom
- Boice Lori
- Bonizzato Giada
- Boot Arnoud
- Bootwalla Moiz S.
- Borg Ake
- Borkhardt Arndt
- Boroevich Keith A.
- Borozan Ivan
- Borst Christoph
- Bosenberg Marcus
- Bosio Mattia
- Boultwood Jacqueline
- Bourque Guillaume
- Boutros Paul C.
- Bova G. Steven
- Bowen David T.
- Bowlby Reanne
- Bowtell David D. L.
- Boyault Sandrine
- Boyce Rich
- Boyd Jeffrey
- Brazma Alvis
- Brennan Paul
- Brewer Daniel S.
- Brinkman Arie B.
- Bristow Robert G.
- Broaddus Russell R.
- Brock Jane E.
- Brock Malcolm
- Broeks Annegien
- Brooks Angela N.
- Brooks Denise
- Brors Benedikt
- Brunak Søren
- Bruxner Timothy J. C.
- Bruzos Alicia L.
- Buchanan Alex
- Buchhalter Ivo
- Buchholz Christiane
- Bullman Susan
- Burke Hazel
- Burkhardt Birgit
- Burns Kathleen H.
- Busanovich John
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- Butler Adam P.
- Butte Atul J.
- Byrne Niall J.
- Børresen-Dale Anne-Lise
- Caesar-Johnson Samantha J.
- Cafferkey Andy
- Cahill Declan
- Calabrese Claudia
- Caldas Carlos
- Calvo Fabien
- Camacho Niedzica
- Campbell Peter J.
- Campo Elias
- Cantù Cinzia
- Cao Shaolong
- Carey Thomas E.
- Carlevaro-Fita Joana
- Carlsen Rebecca
- Cataldo Ivana
- Cazzola Mario
- Cebon Jonathan
- Cerfolio Robert
- Chadwick Dianne E.
- Chakravarty Dimple
- Chalmers Don
- Chan Calvin Wing Yiu
- Chan Kin
- Chan-Seng-Yue Michelle
- Chandan Vishal S.
- Chang David K.
- Chanock Stephen J.
- Chantrill Lorraine A.
- Chateigner Aurélien
- Chatterjee Nilanjan
- Chayama Kazuaki
- Chen Hsiao-Wei
- Chen Jieming
- Chen Ken
- Chen Yiwen
- Chen Zhaohong
- Cherniack Andrew D.
- Chien Jeremy
- Chiew Yoke-Eng
- Chin Suet-Feung
- Chiotti Kami
- Cho Juok
- Cho Sunghoon
- Choi Jung Kyoon
- Choi Wan
- Chomienne Christine
- Chong Zechen
- Choo Su Pin
- Chou Angela
- Christ Angelika N.
- Christie Elizabeth L.
- Chuah Eric
- Cibulskis Carrie
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- Clapham Peter
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- Cmero Marek
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- Connor Ashton A.
- Cooke Susanna L.
- Cooper Colin S.
- Cope Leslie
- Corbo Vincenzo
- Cordes Matthew G.
- Cordner Stephen M.
- Cortés-Ciriano Isidro
- Covington Kyle
- Cowin Prue A.
- Craft Brian
- Craft David
- Creason Allison
- Creighton Chad J.
- Cun Yupeng
- Curley Erin
- Cutcutache Ioana
- Czajka Karolina
- Czerniak Bogdan
- Dagg Rebecca A.
- Danilova Ludmila
- Davi Maria Vittoria
- Davidson Natalie R.
- Davies Helen
- Davis Ian J.
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- Dawson Kevin J.
- De Bono Johann S.
- De La Vega Francisco M.
- De Paoli-Iseppi Ricardo
- deFazio Anna
- Defreitas Timothy
- Dei Tos Angelo P.
- Delaneau Olivier
- Demchok John A.
- Demeulemeester Jonas
- Demidov German M.
- Demircioğlu Deniz
- Dennis Nening M.
- Denroche Robert E.
- Dentro Stefan C.
- Desai Nikita
- Deshpande Vikram
- Deshwar Amit G.
- Desmedt Christine
- Deu-Pons Jordi
- Dhalla Noreen
- Dhani Neesha C.
- Dhingra Priyanka
- Dhir Rajiv
- Diamanti Klev
- DiBiase Anthony
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- Doddapaneni HarshaVardhan
- Dong Guanlan
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- Dow Michelle T.
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- Dudderidge Tim
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- Easton Douglas F.
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- Ehinger Anna
- Eils Juergen
- Eils Roland
- El-Naggar Adel
- Eldridge Matthew
- Ellrott Kyle
- Erkek Serap
- Escaramis Georgia
- Espiritu Shadrielle M. G.
- Estivill Xavier
- Etemadmoghadam Dariush
- Eyfjord Jorunn E.
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- Fan Daiming
- Fan Yu
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- Farcas Claudiu
- Fassan Matteo
- Fatima Aquila
- Favero Francesco
- Fayzullaev Nodirjon
- Felau Ina
- Fereday Sian
- Ferguson Martin L.
- Ferretti Vincent
- Feuerbach Lars
- Field Matthew A.
- Fink J. Lynn
- Finocchiaro Gaetano
- Fisher Cyril
- Fittall Matthew W.
- Fitzgerald Anna
- Fitzgerald Rebecca C.
- Flanagan Adrienne M.
- Fleshner Neil E.
- Flicek Paul
- Foekens John A.
- Foltz Steven
- Fong Kwun M.
- Fonseca Nuno A.
- Foster Christopher S.
- Fox Natalie S.
- Fraser Michael
- Frazer Scott
- Frenkel-Morgenstern Milana
- Friedman William
- Frigola Joan
- Fronick Catrina C.
- Fujimoto Akihiro
- Fujita Masashi
- Fukayama Masashi
- Fulton Lucinda A.
- Fulton Robert S.
- Furuta Mayuko
- Futreal P. Andrew
- Füllgrabe Anja
- Gabriel Stacey B.
- Gallinger Steven
- Gambacorti-Passerini Carlo
- Gao Jianjiong
- Gao Shengjie
- Garraway Levi
- Garred Øystein
- Garrison Erik
- Garsed Dale W.
- Gehlenborg Nils
- Gelpi Josep L. l.
- George Joshy
- Gerhard Daniela S.
- Gerhauser Clarissa
- Gershenwald Jeffrey E.
- Gerstein Mark B.
- Gerstung Moritz
- Getz Gad
- Ghori Mohammed
- Ghossein Ronald
- Giama Nasra H.
- Gibbs Richard A.
- Gill Anthony J.
- Gill Pelvender
- Giri Dilip D.
- Glodzik Dominik
- Gnanapragasam Vincent J.
- Goebler Maria Elisabeth
- Goldman Mary J.
- Gomez Carmen
- Gonzalez Santiago
- Gonzalez-Perez Abel
- Gordenin Dmitry A.
- Gossage James
- Gotoh Kunihito
- Govindan Ramaswamy
- Grabau Dorthe
- Graham Janet S.
- Grant Robert C.
- Green Anthony R.
- Green Eric
- Greger Liliana
- Grehan Nicola
- Grimaldi Sonia
- Grimmond Sean M.
- Grossman Robert L.
- Grundhoff Adam
- Gundem Gunes
- Guo Qianyun
- Gupta Manaswi
- Gupta Shailja
- Gut Ivo G.
- Gut Marta
- Göke Jonathan
- Ha Gavin
- Haake Andrea
- Haan David
- Haas Siegfried
- Haase Kerstin
- Haber James E.
- Habermann Nina
- Hach Faraz
- Haider Syed
- Hale Walker
- Hama Natsuko
- Hamdy Freddie C.
- Hamilton Anne
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- Han Leng
- Hanna George B.
- Hansmann Martin
- Haradhvala Nicholas J.
- Harismendy Olivier
- Harliwong Ivon
- Harmanci Arif O.
- Harrington Eoghan
- Hasegawa Takanori
- Haussler David
- Hawkins Steve
- Hayami Shinya
- Hayashi Shuto
- Hayes D. Neil
- Hayes Stephen J.
- Hayward Nicholas K.
- Hazell Steven
- He Yao
- Heath Allison P.
- Heath Simon C.
- Hedley David
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- Heinold Michael C.
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- Hellstrom-Lindberg Eva
- Helmy Mohamed
- Heo Seong Gu
- Hepperla Austin J.
- Heredia-Genestar José María
- Herrmann Carl
- Hersey Peter
- Hess Julian M.
- Hilmarsdottir Holmfridur
- Hinton Jonathan
- Hirano Satoshi
- Hiraoka Nobuyoshi
- Hoadley Katherine A.
- Hobolth Asger
- Hodzic Ermin
- Hoell Jessica I.
- Hoffmann Steve
- Hofmann Oliver
- Holbrook Andrea
- Holik Aliaksei Z.
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- Holmes Oliver
- Holt Robert A.
- Hong Chen
- Hong Eun Pyo
- Hong Jongwhi H.
- Hooijer Gerrit K.
- Hornshøj Henrik
- Hosoda Fumie
- Hou Yong
- Hovestadt Volker
- Howat William
- Hoyle Alan P.
- Hruban Ralph H.
- Hu Jianhong
- Hu Taobo
- Hua Xing
- Huang Kuan-lin
- Huang Mei
- Huang Mi Ni
- Huang Vincent
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- Hung Jillian A.
- Huntsman David
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- Huse Jason
- Huska Matthew R.
- Hutter Barbara
- Hutter Carolyn M.
- Hübschmann Daniel
- Iacobuzio-Donahue Christine A.
- Imbusch Charles David
- Imielinski Marcin
- Imoto Seiya
- Isaacs William B.
- Isaev Keren
- Ishikawa Shumpei
- Iskar Murat
- Islam S. M. Ashiqul
- Ittmann Michael
- Ivkovic Sinisa
- Izarzugaza Jose M. G.
- Jacquemier Jocelyne
- Jakrot Valerie
- Jamieson Nigel B.
- Jan Komorowski
- Jang Gun Ho
- Jang Se Jin
- Jayaseelan Joy C.
- Jayasinghe Reyka
- Jefferys Stuart R.
- Jegalian Karine
- Jennings Jennifer L.
- Jeon Seung-Hyup
- Jerman Lara
- Ji Yuan
- Jiao Wei
- Johansson Peter A.
- Johns Amber L.
- Johns Jeremy
- Johnson Rory
- Johnson Todd A.
- Jolly Clemency
- Joly Yann
- Jonasson Jon G.
- Jonathan Dursi Lewis
- Jones Corbin D.
- Jones David R.
- Jones David T. W.
- Jones Nic
- Jones Steven J. M.
- Jonkers Jos
- Ju Young Seok
- Juhl Hartmut
- Jung Jongsun
- Juul Malene
- Juul Randi Istrup
- Juul Sissel
- Jäger Natalie
- Kabbe Rolf
- Kahles Andre
- Kahraman Abdullah
- Kaiser Vera B.
- Kakavand Hojabr
- Kalimuthu Sangeetha
- Kandoth Cyriac
- Kang Koo Jeong
- Karaszi Katalin
- Karlan Beth
- Karlić Rosa
- Karsch Dennis
- Kasaian Katayoon
- Kasapi Melpomeni
- Kassahn Karin S.
- Katai Hitoshi
- Kato Mamoru
- Katoh Hiroto
- Kawakami Yoshiiku
- Kay Jonathan D.
- Kazakoff Stephen H.
- Kazanov Marat D.
- Keays Maria
- Kebebew Electron
- Kefford Richard F.
- Kellis Manolis
- Kelso Sean
- Kench James G.
- Kennedy Catherine J.
- Kerssemakers Jules N. A.
- Khoo David
- Khoo Vincent
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- Kilpinen Helena
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- Kim Hyunghwan
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- Kim Jong K.
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- Klapper Wolfram
- Kleinheinz Kortine
- Klimczak Leszek J.
- Knappskog Stian
- Kneba Michael
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- Koh Youngil
- Komura Daisuke
- Komura Mitsuhiro
- Kong Gu
- Kool Marcel
- Korbel Jan O.
- Korchina Viktoriya
- Korshunov Andrey
- Koscher Michael
- Koster Roelof
- Kote-Jarai Zsofia
- Koures Antonios
- Kovacevic Milena
- Kremeyer Barbara
- Kretzmer Helene
- Kreuz Markus
- Krishnamurthy Savitri
- Kube Dieter
- Kumar Kiran
- Kumar Pardeep
- Kumar Sushant
- Kumar Yogesh
- Kundra Ritika
- Kübler Kirsten
- Küppers Ralf
- Lagergren Jesper
- Lai Phillip H.
- Laird Peter W.
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- Lalansingh Christopher M.
- Lalonde Emilie
- Lamaze Fabien C.
- Lambert Adam
- Lander Eric
- Landgraf Pablo
- Landoni Luca
- Langerød Anita
- Lanzós Andrés
- Larsimont Denis
- Larson Dave
- Larsson Erik
- Lathrop Mark
- Lau Loretta M. S.
- Lawerenz Chris
- Lawlor Rita T.
- Lawrence Michael S.
- Lazar Alexander J.
- Le Xuan
- Lee Darlene
- Lee Donghoon
- Lee Eunjung Alice
- Lee Hee Jin
- Lee Jake June-Koo
- Lee Jeong-Yeon
- Lee Juhee
- Lee Ming Ta Michael
- Lee-Six Henry
- Lehmann Kjong-Van
- Lehrach Hans
- Lenze Dido
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- Leongamornlert Daniel A.
- Leshchiner Ignaty
- Letaw John
- Letourneau Louis
- Letunic Ivica
- Levine Douglas A.
- Lewis Lora
- Ley Tim
- Li Chang
- Li Constance H.
- Li Haiyan Irene
- Li Jun
- Li Lin
- Li Shantao
- Li Siliang
- Li Xiaobo
- Li Xiaotong
- Li Xinyue
- Li Yilong
- Li Yize
- Liang Han
- Liang Sheng-Ben
- Liang Wen-Wei
- Lichter Peter
- Lin Pei
- Lin Ziao
- Linehan W. M.
- Lingjærde Ole Christian
- Liu Dongbing
- Liu Eric Minwei
- Liu Fei-Fei
- Liu Fenglin
- Liu Jia
- Liu Xingmin
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- Yakneen Sergei
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- Yao Xiaotong
- Yaspo Marie-Laure
- Yates Lucy
- Yau Christina
- Ye Chen
- Ye Kai
- Yellapantula Venkata D.
- Yoon Christopher J.
- Yoon Sung-Soo
- Yousif Fouad
- Yu Jun
- Yu Kaixian
- Yu Willie
- Yu Yingyan
- Yuan Ke
- Yuan Yuan
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- Yugawa Takashi
- Yung Christina K.
- Zaikova Olga
- Zamora Jorge
- Zapatka Marc
- Zenklusen Jean C.
- Zenz Thorsten
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- Zhang Cheng-Zhong
- Zhang Fan
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- Zhang Hongwei
- Zhang Hongxin
- Zhang Jiashan
- Zhang Jing
- Zhang Junjun
- Zhang Xiuqing
- Zhang Xuanping
- Zhang Yan
- Zhang Zemin
- Zhao Zhongming
- Zheng Liangtao
- Zheng Xiuqing
- Zhou Wanding
- Zhou Yong
- Zhu Hongtu
- Zhu Jingchun
- Zhu Shida
- Zou Lihua
- Zou Xueqing
- Publication venue
- Nature Communications
- Publication date
- 01/12/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts