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An integrated map of genetic variation from 1,092 human genomes
483 auth.
Gil A. McVean,
David M. Altshuler (Co-Chair),
Richard M. Durbin (Co-Chair),
Gonçalo R. Abecasis,
D. Bentley,
A. Chakravarti,
A. Clark,
P. Donnelly,
Evan E. Eichler,
Paul Flicek,
S. Gabriel,
Richard A. Gibbs,
E. Green,
M. Hurles,
B. Knoppers,
...
J. Korbel,
E. Lander,
Charles Lee,
H. Lehrach,
E. Mardis,
Gabor T. Marth,
Gil A. McVean,
D. Nickerson,
Jeanette Schmidt,
S. Sherry,
Jun Wang,
R. Wilson,
Richard A. Gibbs (Principal Investigator),
H. Dinh,
C. Kovar,
Sandy Lee,
L. Lewis,
D. Muzny,
Jeff G. Reid,
Min Wang,
Jun Wang (Principal Investigator),
X. Fang,
Xiaosen Guo,
Min Jian,
Hui Jiang,
Xin Jin,
Guoqing Li,
Jingxiang Li,
Yingrui Li,
Zhuo Li,
Xiao Liu,
Yao Lu,
Xuedi Ma,
Zheng Su,
S. Tai,
M. Tang,
Bo Wang,
Guangbiao Wang,
Honglong Wu,
Renhua Wu,
Ye Yin,
Wenwei Zhang,
Jiao Zhao,
Meiru Zhao,
Xiaole Zheng,
Yan Zhou,
Eric S. Lander (Principal Investigator),
D. Altshuler,
Stacey B. Gabriel (Co-Chair),
N. Gupta,
Paul Flicek (Principal Investigator),
Laura Clarke,
R. Leinonen,
Richard E. Smith,
Xiangqun Zheng-Bradley,
David R. Bentley (Principal Investigator),
R. Grocock,
S. Humphray,
Terena James,
Z. Kingsbury,
Hans Lehrach (Principal Investigator),
Ralf Sudbrak (Project Leader),
Marcus W. Albrecht,
V. Amstislavskiy,
T. Borodina,
M. Lienhard,
F. Mertes,
M. Sultan,
B. Timmermann,
M. Yaspo,
Stephen T. Sherry (Principal Investigator),
Gil A. McVean (Principal Investigator),
Elaine R. Mardis (Co-Principal Investigator) (Co-Chair),
Richard K. Wilson (Co-Principal Investigator),
L. Fulton,
R. Fulton,
G. Weinstock,
Richard M. Durbin (Principal Investigator),
Senduran Balasubramaniam,
J. Burton,
P. Danecek,
Thomas M. Keane,
Anja Kolb-Kokocinski,
Shane A. McCarthy,
J. Stalker,
Michael A. Quail,
Jeanette P. Schmidt (Principal Investigator),
C. J. Davies,
J. Gollub,
Teresa A. Webster,
Brant Wong,
Yiping Zhan,
Adam Auton (Principal Investigator),
Fuli Yu (Project Leader),
M. Bainbridge,
Danny Challis,
U. S. Evani,
James T. Lu,
U. Nagaswamy,
A. Sabo,
Jin Yu,
L. Coin,
L. Fang,
Qibin Li,
Zhenyu Li,
Haoxiang Lin,
Binghang Liu,
Ruibang Luo,
Nan Qin,
Haojing Shao,
Yinlong Xie,
C. Ye,
Chang Yu,
Fan Zhang,
Hancheng Zheng,
Hongmei Zhu,
Gabor T. Marth (Principal Investigator),
Erik P. Garrison,
Deniz Kural,
Wan-Ping Lee,
Wen Fung Leong,
Alistair N. Ward,
Jiantao Wu,
Mengyao Zhang,
Charles Lee (Principal Investigator),
Lauren Griffin,
Chih-heng Hsieh,
Ryan E. Mills,
Xinghua Shi,
Marcin von Grotthuss,
Chengsheng Zhang,
Mark J. Daly (Principal Investigator),
Mark A. DePristo (Project Leader),
E. Banks,
G. Bhatia,
Mauricio O. Carneiro,
G. Del Angel,
G. Genovese,
R. Handsaker,
C. Hartl,
S. Mccarroll,
J. Nemesh,
R. Poplin,
S. Schaffner,
Khalid Shakir,
Seungtai C. Jayon Vladimir Yoon (Principal Investigator) Lihm Makarov,
Seungtai C. Yoon (Principal Investigator),
Jayon Lihm,
Vladimir Makarov,
Hanjun Wook Ki Jin (Principal Investigator) Kim Cheol Kim,
Hanjun Jin (Principal Investigator),
Wook Kim,
Ki Cheol Kim,
Jan O. Tobias Korbel (Principal Investigator) Rausch,
Jan O. Korbel (Principal Investigator),
T. Rausch,
Kathryn M Beal,
Fiona Cunningham,
Javier Herrero,
W. McLaren,
G. Ritchie,
Andrew G. Clark (Principal Investigator),
S. Gottipati,
A. Keinan,
Juan L. Rodriguez-Flores,
Pardis C. Sabeti (Principal Investigator),
S. Grossman,
S. Tabrizi,
Ridhi Tariyal,
David N. Edward V. Peter D. Cooper (Principal Investigator) Ball Stenson,
David N. Cooper (Principal Investigator),
E. Ball,
P. Stenson,
B. Barnes,
Markus Bauer,
R. Keira Cheetham,
Tony Cox,
M. Eberle,
Scott D. Kahn,
L. Murray,
J. Peden,
Richard Shaw,
Kai Ye (Principal Investigator),
Mark A. Miriam K. Jerilyn A. Batzer (Principal Investigator) Konkel Walker,
Mark A. Batzer (Principal Investigator),
Miriam K. Konkel,
Jerilyn A. Walker,
Daniel G. Monkol MacArthur (Principal Investigator) Lek,
Daniel G. MacArthur (Principal Investigator),
M. Lek,
Vyacheslav S. Ralf Sudbrak (Project Leader) Amstislavskiy Herwig,
Sudbrak (Project Leader),
R. Herwig,
Mark D. Shriver (Principal Investigator),
Carlos D. Bustamante (Principal Investigator),
Jake K. Byrnes,
Francisco M. De La Vega,
S. Gravel,
E. Kenny,
J. Kidd,
P. Lacroute,
B. K. Maples,
A. Moreno-Estrada,
Fouad Zakharia,
Eran Yael Halperin (Principal Investigator) Baran,
Eran Halperin (Principal Investigator),
Yael Baran,
David W. Craig (Principal Investigator),
Alexis Christoforides,
Nils Homer,
Tyler Izatt,
Ahmet A. Kurdoglu,
Shripad A. Sinari,
Kevin Squire,
Stephen T. Chunlin Sherry (Principal Investigator) Xiao,
Chunlin Xiao,
Jonathan Vineet Kenny Sebat (Principal Investigator) Bafna Ye,
Jonathan Sebat (Principal Investigator),
V. Bafna,
Kenny Q. Ye,
Esteban G. Burchard (Principal Investigator),
Ryan D. Hernandez (Principal Investigator),
Christopher R. Gignoux,
David Haussler (Principal Investigator),
Sol Katzman,
W. James Kent,
Bryan N. Howie,
Andres Ruiz-Linares (Principal Investigator),
Emmanouil T. Tuuli Dermitzakis (Principal Investigator) Lappalainen,
Emmanouil T. Dermitzakis (Principal Investigator),
T. Lappalainen,
Scott E. Xinyue Ankit Luke J. Devine (Principal Investigator) Liu Maroo Tallon,
Scott E. Devine (Principal Investigator),
Xinyue Liu,
A. Maroo,
L. Tallon,
Jeffrey A. Leslie P. Rosenfeld (Principal Investigator) Michelson,
Jeffrey A. Rosenfeld (Principal Investigator),
L. P. Michelson,
Gonçalo R. Abecasis (Principal Investigator) (Co-Chair),
Hyun Min Kang (Project Leader),
Paul Anderson,
A. Angius,
A. Bigham,
T. Blackwell,
F. Busonero,
F. Cucca,
C. Fuchsberger,
Chris Jones,
G. Jun,
Yun Li,
R. Lyons,
A. Maschio,
E. Porcu,
F. Reinier,
S. Sanna,
D. Schlessinger,
C. Sidore,
Adrian Tan,
Mary Kate Trost,
Philip Alan Awadalla (Principal Investigator) Hodgkinson,
Philip Awadalla (Principal Investigator),
A. Hodgkinson,
Gerton Lunter (Principal Investigator),
Gil A. McVean (Principal Investigator) (Co-Chair),
Jonathan L. Marchini (Principal Investigator),
Simon Myers (Principal Investigator),
C. Churchhouse,
Olivier Delaneau,
Anjali Gupta-Hinch,
Z. Iqbal,
I. Mathieson,
A. Rimmer,
Dionysia K. Xifara,
Taras K. Oleksyk (Principal Investigator),
Yunxin Xiaoming Momiao Fu (Principal Investigator) Liu Xiong,
Yunxin Fu (Principal Investigator),
Xiaoming Liu,
Momiao Xiong,
Lynn David Jinchuan Jorde (Principal Investigator) Witherspoon Xing,
Lynn Jorde (Principal Investigator),
D. Witherspoon,
Jinchuan Xing,
Evan E. Eichler (Principal Investigator),
Brian L. Browning (Principal Investigator),
C. Alkan,
Iman Hajirasouliha,
F. Hormozdiari,
Arthur Ko,
Peter H. Sudmant,
Elaine R. Mardis (Co-Principal Investigator),
Ken Chen,
A. Chinwalla,
L. Ding,
D. Dooling,
D. Koboldt,
M. McLellan,
J. Wallis,
M. Wendl,
Qunyuan Zhang,
Matthew E. Hurles (Principal Investigator),
Chris Tyler-Smith (Principal Investigator),
C. A. Albers,
Q. Ayub,
Yuan Chen,
A. Coffey,
V. Colonna,
N. Huang,
L. Jostins,
Heng Li,
A. Scally,
Klaudia Walter,
Yali Xue,
Yujun Zhang,
Mark B. Gerstein (Principal Investigator),
A. Abyzov,
S. Balasubramanian,
Jieming Chen,
Declan Clarke,
Yao Fu,
L. Habegger,
A. Harmanci,
Mike Jin,
Ekta Khurana,
Xinmeng Jasmine Mu,
Cristina Sisu,
Yingrui Ruibang Hongmei Li Luo Zhu,
Charles Lee (Principal Investigator) (Co-Chair),
Steven A. McCarroll (Project Leader),
Jeremiah D. Degenhardt,
Jan O. Korbel (Principal Investigator) (Co-Chair),
A. Stütz,
David W. Nils Craig (Principal Investigator) Homer,
Deanna Chunlin Church Xiao,
D. Church,
Jonathan Vineet Jacob J. Kenny Sebat (Principal Investigator) Bafna Michaelson Ye,
J. Michaelson,
David Jinchuan Witherspoon Xing,
Evan E. Eichler (Principal Investigator) (Co-Chair),
Ken Asif Li Michael D. John W. Chen Chinwalla Ding McLellan Wallis,
Matthew E. Hurles (Principal Investigator) (Co-Chair),
Benjamin P. Blackburne,
S. Lindsay,
Z. Ning,
Mark B. Gerstein (Principal Investigator),
Richard A. Gibbs (Principal Investigator) (Co-Chair),
Xiaosen Yingrui Renhua Guo Li Wu,
Gabor T. Marth (Principal Investigator) (Co-Chair),
Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin,
M. DePristo,
Andrew G. Juan L. Clark (Principal Investigator) Rodriguez-Flores,
Carlos D. Simon Bustamante (Principal Investigator) Gravel,
Gonçalo R. Hyun Abecasis (Principal Investigator) Min Kang,
Gonçalo R. Abecasis (Principal Investigator),
Hyun Min Kang,
Elaine R. Mardis (Principal Investigator),
F. Yu,
Guillermo Robert E. del Angel Handsaker,
Carlos D. Francisco M. Bustamante (Principal Investigator) De La Vega,
David W. Ahmet A. Craig (Principal Investigator) Kurdoglu,
Chris Tyler-Smith (Principal Investigator) (Co-Chair),
A. Frankish,
J. Harrow,
Mark B. Gerstein (Principal Investigator) (Co-Chair),
G. Fowler,
Walker Hale,
D. Kalra,
Jun Xiaosen Guoqing Yingrui Xiaole Wang (Principal Investigator) Guo Li Li Zheng,
Paul Flicek (Principal Investigator) (Co-Chair),
Laura Clarke (Project Leader),
Jonathan A. Barker,
G. Kelman,
Eugene Kulesha,
Rajesh Radhakrishnan,
Asier Roa,
Dmitriy Smirnov,
Ian Streeter,
I. Toneva,
Brendan W. Vaughan,
David R. Tony Sean Scott Bentley (Principal Investigator) Cox Humphray Kahn,
Ralf Marcus W. Matthias Sudbrak (Project Leader) Albrecht Lienhard,
David W. Tyler Ahmet A. Craig (Principal Investigator) Izatt Kurdoglu,
Stephen T. Sherry (Principal Investigator) (Co-Chair),
Victor Ananiev,
Zinaida Belaia,
Dimitriy Beloslyudtsev,
Nathan Bouk,
Chao Chen,
Robert Cohen,
Charles Cook,
John Garner,
T. Hefferon,
M. Kimelman,
Chunlei Liu,
John Lopez,
Peter A. Meric,
Christa O'Sullivan,
Yu. G. Ostapchuk,
Lon Phan,
Sergiy Ponomarov,
Valerie A. Schneider,
Eugene M. Shekhtman,
K. Sirotkin,
D. Slotta,
Hua Zhang,
Can Arthur Alkan Ko,
Aravinda Chakravarti (Co-Chair),
Bartha M. Knoppers (Co-Chair),
Gonçalo R. Abecasis,
K. Barnes,
C. Beiswanger,
E. Burchard,
C. Bustamante,
Hongyu Cai,
H. Cao,
R. Durbin,
N. Gharani,
Richard A. Gibbs,
B. Henn,
Danielle A. Jones,
L. Jorde,
J. Kaye,
A. Kent,
A. Kerasidou,
R. Mathias,
P. Ossorio,
M. Parker,
D. Reich,
C. Rotimi,
C. Royal,
Karla Sandoval,
Yeyang Su,
R. Sudbrak,
Zhongming Tian,
S. Tishkoff,
L. Toji,
C. Tyler-Smith,
M. Via,
H. Yang,
Ling Yang,
Jia Zhu,
Walter Bodmer,
Gabriel Andres Bedoya Ruiz-Linares,
G. Bedoya,
A. Ruiz-Linares,
Cai Gao Chu Zhi Ming Yang Jia You,
Cai Zhi Ming,
Gao Yang,
Chu Jia You,
L. Peltonen,
Andres Alberto Garcia-Montero Orfao,
A. García-Montero,
A. Órfão,
Julie Juan C. Taras K. Dutil Martinez-Cruzado Oleksyk,
J. Dutil,
J. Martínez-Cruzado,
Taras K. Oleksyk,
L. Brooks,
A. Felsenfeld,
J. Mcewen,
Nicholas C. Clemm,
A. Duncanson,
Michael Dunn,
M. Guyer,
Jane L. Peterson,
Gonçalo R. Abecasis,
A. Auton,
Gabor T. Marth
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12 |
2012 |
12 🐜
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Patterns and rates of exonic de novo mutations in autism spectrum disorders
59 auth.
B. Neale,
Y. Kou,
Li Liu,
Avi Ma’ayan,
K. Samocha,
A. Sabo,
Chiao-Feng Lin,
C. Stevens,
Li-San Wang,
Vladimir Makarov,
P. Polak,
Seungtai Yoon,
J. Maguire,
Emily L. Crawford,
N. Campbell,
...
Evan T. Geller,
O. Valladares,
Chad Shafer,
Han Liu,
Tuo Zhao,
Guiqing Cai,
Jayon Lihm,
R. Dannenfelser,
O. Jabado,
Zuleyma Peralta,
U. Nagaswamy,
D. Muzny,
J. Reid,
I. Newsham,
Yuanqing Wu,
L. Lewis,
Yi Han,
B. Voight,
Elaine T. Lim,
E. Rossin,
Andrew W. Kirby,
J. Flannick,
M. Fromer,
Khalid Shakir,
T. Fennell,
K. Garimella,
E. Banks,
R. Poplin,
S. Gabriel,
M. DePristo,
Jack R. Wimbish,
B. Boone,
S. Levy,
C. Betancur,
S. Sunyaev,
E. Boerwinkle,
J. Buxbaum,
E. Cook,
B. Devlin,
R. Gibbs,
K. Roeder,
G. Schellenberg,
J. Sutcliffe,
M. Daly
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10 |
2012 |
10 🐜
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Personalized RNA neoantigen vaccines stimulate T cells in pancreatic cancer
51 auth.
Luis A. Rojas,
Zachary M. Sethna,
K. Soares,
C. Olcese,
Nan Pang,
Erin Patterson,
Jayon Lihm,
Nicholas Ceglia,
Pablo Guasp,
Alexander Chu,
Rebecca Yu,
A. Chandra,
T. Waters,
J. Ruan,
Masataka Amisaki,
...
Abderezak Zebboudj,
Z. Odgerel,
George Payne,
E. Derhovanessian,
F.-J. Müller,
I. Rhee,
M. Yadav,
Anton Dobrin,
M. Sadelain,
M. Łuksza,
Noah Cohen,
Laura A Tang,
O. Basturk,
M. Gönen,
S. Katz,
Richard K G Do,
A. Epstein,
Parisa Momtaz,
Wungki Park,
R. Sugarman,
A. Varghese,
E. Won,
A. Desai,
Alice C. Wei,
M. D'Angelica,
T. Kingham,
I. Mellman,
T. Merghoub,
J. Wolchok,
U. Şahin,
Ö. Türeci,
B. Greenbaum,
W. Jarnagin,
J. Drebin,
E. O’Reilly,
V. Balachandran
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9 |
2023 |
9 🐜
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De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability
18 auth.
S. McCarthy,
J. Gillis,
M. Kramer,
Jayon Lihm,
Seungtai Yoon,
Yael Berstein,
Meeta Mistry,
P. Pavlidis,
R. Solomon,
E. Ghiban,
...
E. Antoniou,
E. Kelleher,
Carol O'Brien,
G. Donohoe,
M. Gill,
D. Morris,
W. McCombie,
A. Corvin
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8 |
2014 |
8 🐜
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Neoantigen quality predicts immunoediting in survivors of pancreatic cancer
33 auth.
M. Łuksza,
Zachary M. Sethna,
Luis A. Rojas,
Jayon Lihm,
B. Bravi,
Yuval Elhanati,
K. Soares,
Masataka Amisaki,
Anton Dobrin,
D. Hoyos,
Pablo Guasp,
Abderezak Zebboudj,
Rebecca Yu,
A. Chandra,
T. Waters,
...
Z. Odgerel,
Joanne Leung,
R. Kappagantula,
Alvin P. Makohon-Moore,
A. Johns,
A. Gill,
M. Gigoux,
J. Wolchok,
T. Merghoub,
M. Sadelain,
Erin Patterson,
R. Monasson,
T. Mora,
A. Walczak,
S. Cocco,
C. Iacobuzio-Donahue,
B. Greenbaum,
V. Balachandran
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6 |
2022 |
6 🐜
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🐬
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AnnTools: a comprehensive and versatile annotation toolkit for genomic variants
Vladimir Makarov,
Tina M. O’Grady,
Guiqing Cai,
Jayon Lihm,
J. Buxbaum,
Seungtai Yoon
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5 |
2012 |
5 🐬
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🐜
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Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia
19 auth.
S. Teng,
P. Thomson,
S. McCarthy,
M. Kramer,
S. Muller,
Jayon Lihm,
S. Morris,
D. Soares,
W. Hennah,
S. Harris,
...
L. M. Camargo,
Vladislav Malkov,
A. McIntosh,
J. Millar,
D. Blackwood,
K. Evans,
I. Deary,
D. Porteous,
W. Mccombie
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5 |
2016 |
5 🐜
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🐜
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Clinical and molecular features of acquired resistance to immunotherapy in non-small cell lung cancer
24 auth.
D. Memon,
H. Rizvi,
George Fromm,
Jayon Lihm,
A. Schoenfeld,
J. Sauter,
Jia Luo,
A. Chow,
U. Bhanot,
C. McCarthy,
...
Darwin Ye,
Chad M. Vanderbilt,
Cailian Liu,
Mohsen Abu-Akeel,
A. Plodkowski,
N. Mcgranahan,
M. Łuksza,
B. Greenbaum,
T. Merghoub,
A. Minn,
P. Beltrão,
Taylor H. Schreiber,
Martin L. Miller,
M. Hellmann
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5 |
2021 |
5 🐜
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🐜
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Systemic and oligo-acquired resistance to PD-(L)1 blockade in lung cancer.
20 auth.
A. Schoenfeld,
H. Rizvi,
D. Memon,
N. Shaverdian,
M. Bott,
J. Sauter,
C. J. Tsai,
Jayon Lihm,
D. Hoyos,
A. Plodkowski,
...
R. Perez-Johnston,
P. Sawan,
J. Egger,
B. Greenbaum,
A. Rimner,
Gregory Riely,
C. Rudin,
V. Rusch,
D. Gomez,
M. Hellmann
|
4 |
2022 |
4 🐜
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🐜
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DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders
19 auth.
Niamh M Ryan,
Jayon Lihm,
M. Kramer,
Shane McCarthy,
S. Morris,
Aleix Arnau-Soler,
G. Davies,
Barbara J. Duff,
E. Ghiban,
C. Hayward,
...
I. Deary,
D. Blackwood,
S. Lawrie,
Andrew M. McIntosh,
Andrew M. McIntosh,
Kathryn L. Evans,
D. Porteous,
W. McCombie,
P. Thomson
|
4 |
2018 |
4 🐜
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🐜
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RNA neoantigen vaccines prime long-lived CD8+ T cells in pancreatic cancer
47 auth.
Zachary M. Sethna,
Pablo Guasp,
Charlotte Reiche,
Martina Milighetti,
Nicholas Ceglia,
Erin Patterson,
Jayon Lihm,
George Payne,
Olga Lyudovyk,
Luis A. Rojas,
Nan Pang,
Akihiro Ohmoto,
Masataka Amisaki,
Abderezak Zebboudj,
Z. Odgerel,
...
Emmanuel M Bruno,
Siqi Linsey Zhang,
Charlotte Cheng,
Yuval Elhanati,
E. Derhovanessian,
Luisa Manning,
Felicitas Müller,
Ina Rhee,
M. Yadav,
T. Merghoub,
J. Wolchok,
O. Basturk,
M. Gönen,
Andrew S. Epstein,
Parisa Momtaz,
Wungki Park,
R. Sugarman,
A.M. Varghese,
E. Won,
A. Desai,
Alice C. Wei,
M. D'Angelica,
T. Kingham,
Kevin C Soares,
W. Jarnagin,
J. Drebin,
Eileen M. O’Reilly,
Ira Mellman,
U. Şahin,
Ö. Türeci,
Benjamin D. Greenbaum,
Vinod P. Balachandran
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3 |
2025 |
3 🐜
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🐜
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SU7 BEYOND THE TRANSLOCATION: WHOLE GENOME SEQUENCING ANALYSIS OF THE SCOTTISH T(1;11) FAMILY
14 auth.
Niamh M. Ryan,
Jayon Lihm,
M. Kramer,
S. McCarthy,
K. Evans,
E. Ghiban,
J. Millar,
Generation Scotland,
A. McIntosh,
D. Blackwood,
...
S. Lawrie,
D. Porteous,
W. McCombie,
P. Thomson
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0 |
2019 |
0 🐜
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🦁
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Detection of copy number variation in whole exome sequencing data using read-depth of coverage
9 auth.
Jayon Lihm,
Makarov,
Tina M. O’Grady,
Guiqing Cai,
N. Takahashi,
E. Parkhomento,
...
M. Gazoiu,
J. Buxbaum,
Seungtai Yoon
|
0 |
2011 |
0 🦁
|