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🐜
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
198 auth.
C. Brownstein,
A. Beggs,
Nils Homer,
Barry Merriman,
Timothy W. Yu,
Katherine C Flannery,
E. Dechene,
Meghan C Towne,
Sarah K. Savage,
Emily N Price,
Ingrid A. Holm,
Lovelace J. Luquette,
Elaine Lyon,
Joseph Majzoub,
Peter Neupert,
...
David McCallie Jr,
Peter Szolovits,
Huntington F. Willard,
N. Mendelsohn,
R. Temme,
Richard S Finkel,
S. Yum,
L. Medne,
S. Sunyaev,
Ivan Adzhubey,
C. Cassa,
P. D. de Bakker,
Hatice Duzkale,
Piotr Dworzynski,
William G. Fairbrother,
L. Francioli,
Birgit H Funke,
Monica A. Giovanni,
R. Handsaker,
Kasper Lage,
Matthew S. Lebo,
M. Lek,
I. Leshchiner,
D. MacArthur,
Heather M. McLaughlin,
Michael F. Murray,
T. Pers,
P. Polak,
Soumya Raychaudhuri,
H. L. Rehm,
Rachel Soemedi,
N. Stitziel,
Sara Vestecka,
Jochen Supper,
Claudia Gugenmus,
B. Klocke,
Alexander Hahn,
M. Schubach,
Mortiz Menzel,
Saskia Biskup,
P. Freisinger,
M. Deng,
Martin Braun,
Sven Perner,
R. Smith,
Janeen L Andorf,
Jian Huang,
Kelli Ryckman,
V. Sheffield,
E. Stone,
Thomas Bair,
E. Black-Ziegelbein,
Terry A Braun,
B. Darbro,
Adam P. DeLuca,
D. Kolbe,
T. Scheetz,
A. Shearer,
Rama Sompallae,
Kai Wang,
A. Bassuk,
Erik Edens,
K. Mathews,
Steven A Moore,
O. Shchelochkov,
Pamela Trapane,
A. Bossler,
Colleen A. Campbell,
J. Heusel,
A. Kwitek,
Tara Maga,
Karin Panzer,
T. Wassink,
Douglas Van Daele,
H. Azaiez,
K. Booth,
Nic Meyer,
Michael M. Segal,
Marc S. Williams,
Gerard Tromp,
Peter S. White,
Donald Corsmeier,
Sara Fitzgerald-Butt,
Gail Herman,
Devon Lamb-Thrush,
Kim L McBride,
D. Newsom,
Christopher R. Pierson,
Alexander T Rakowsky,
A. Maver,
L. Lovrečić,
A. Palandačič,
B. Peterlin,
Ali Torkamani,
Anna Wedell,
Mikael Huss,
A. Alexeyenko,
Jessica M Lindvall,
Måns Magnusson,
Daniel Nilsson,
H. Stranneheim,
F. Taylan,
C. Gilissen,
A. Hoischen,
B. V. van Bon,
H. Yntema,
M. Nelen,
Weidong Zhang,
Jason Sager,
Lu Zhang,
Kathryn Blair,
Deniz Kural,
M. Cariaso,
Greg G Lennon,
Asif Javed,
Saloni Agrawal,
Pauline C Ng,
Komal S Sandhu,
Shuba Krishna,
V. Veeramachaneni,
O. Isakov,
Eran Halperin,
Eitan Friedman,
N. Shomron,
G. Glusman,
J. Roach,
Juan Caballero,
Hannah C Cox,
Denise E. Mauldin,
S. Ament,
L. Rowen,
Daniel R Richards,
F. A. S. Lucas,
M. Gonzalez-Garay,
C. T. Caskey,
Yu Bai,
Ying Huang,
Fang Fang,
Yan Zhang,
Zhengyuan Wang,
Jorge Barrera,
J. M. García-Lobo,
Domingo González-Lamuño,
Javier Llorca,
Maria C Rodriguez,
Ignacio Varela,
Martin G Reese,
Francisco M. De La Vega,
Edward S. Kiruluta,
Michele Cargill,
Reece K. Hart,
Jon M Sorenson,
G. Lyon,
David A Stevenson,
Bruce E Bray,
Barry Moore,
K. Eilbeck,
M. Yandell,
Hongyu Zhao,
Lin Hou,
Xiaowei Chen,
Xiting Yan,
Mengjie Chen,
Cong Li,
Can Yang,
Murat Gunel,
Peining Li,
Yong Kong,
Austin C Alexander,
Z. Albertyn,
K. Boycott,
Dennis E. Bulman,
Paul MK Gordon,
A. Innes,
B. Knoppers,
Jacek Majewski,
Christian R. Marshall,
J. Parboosingh,
Sarah L. Sawyer,
M. E. Samuels,
J. Schwartzentruber,
I. Kohane,
D. Margulies
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8 |
2014 |
8
🐜
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|
🐢
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Artificial Intelligence for Risk Assessment on Primary Prevention of Coronary Artery Disease
8 auth.
Shang-Fu Chen,
Salvatore Loguercio,
Kai-Yu Chen,
Sang Eun Lee,
Jun-Bean Park,
Shuchen Liu,
...
H. J. Sadaei,
Ali Torkamani
|
2 |
2023 |
2
🐢
|
|
🐢
|
Polygenic Risk Score-Based Association Analysis of Speech-in-Noise and Hearing Threshold Measures in Healthy Young Adults with Self-reported Normal Hearing
7 auth.
I. Bhatt,
Sai Kumar Ramadugu,
Shawn Goodman,
S. Bhagavan,
Valerie Ingalls,
Raquel Dias,
...
Ali Torkamani
|
2 |
2023 |
2
🐢
|
|
🐬
|
Zoish: A Novel Feature Selection Approach Leveraging Shapley Additive Values for Machine Learning Applications in Healthcare
H. Sadaei,
Salvatore Loguercio,
Mahdi Shafiei Neyestanak,
Ali Torkamani,
Daria Prilutsky
|
0 |
2023 |
0
🐬
|
|
🐢
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Meta-prediction of coronary artery disease risk.
10 auth.
Shang-Fu Chen,
Sang Eun Lee,
H. Sadaei,
Jun-Bean Park,
Ahmed Khattab,
Jei-Fu Chen,
...
Corneliu Henegar,
Nathan Wineinger,
E. Muse,
Ali Torkamani
|
0 |
2025 |
0
🐢
|
|
🐜
|
Apr 11, 2022 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in
158 auth.
C. Brownstein,
A. Beggs,
Nils Homer,
Barry Merriman,
Timothy W. Yu,
Katherine C Flannery,
E. Dechene,
Meghan C Towne,
Sarah K. Savage,
Emily N Price,
Ingrid A. Holm,
Lovelace J. Luquette,
Elaine Lyon,
Joseph Majzoub,
Peter Neupert,
...
David McCallie,
Peter Szolovits,
Huntington F. Willard,
N. Mendelsohn,
R. Temme,
Richard S Finkel,
S. Yum,
L. Medne,
S. Sunyaev,
Ivan Adzhubey,
C. Cassa,
Paul IW de Bakker,
Hatice Duzkale,
Piotr Dworzy,
ski,
William G. Fairbrother,
L. Francioli,
Birgit H Funke,
Monica A. Giovanni,
R. Handsaker,
Kasper Lage,
Matthew S. Lebo,
M. Lek,
I. Leshchiner,
D. MacArthur,
Heather M. McLaughlin,
Michael F. Murray,
T. Pers,
P. Polak,
Soumya Raychaudhuri,
H. L. Rehm,
Rachel Soemedi,
N. Stitziel,
Sara Vestecka,
Jochen Supper,
Claudia Gugenmus,
B. Klocke,
Alexander Hahn,
M. Schubach,
Mortiz Menzel,
Saskia Biskup,
P. Freisinger,
M. Deng,
Martin Braun,
Sven Perner,
R. Smith,
Janeen L Andorf,
Jian Huang,
Kelli Ryckman,
V. Sheffield,
E. Stone,
Thomas Bair,
E. Black-Ziegelbein,
Terry A Braun,
B. Darbro,
Adam P. DeLuca,
D. Kolbe,
T. Scheetz,
A. Shearer,
Rama Sompallae,
Kai Wang,
A. Bassuk,
Erik Edens,
K. Mathews,
Steven A Moore,
O. Shchelochkov,
Pamela Trapane,
A. Bossler,
Colleen A. Campbell,
J. Heusel,
A. Kwitek,
Tara Maga,
Karin Panzer,
T. Wassink,
D. V. Daele,
H. Azaiez,
K. Booth,
Nic Meyer,
Michael M. Segal,
Marc S. Williams,
Gerard Tromp,
Peter S. White,
Donald Corsmeier,
Sara Fitzgerald-Butt,
Gail Herman,
Devon Lamb-Thrush,
Kim L McBride,
D. Newsom,
Christopher R. Pierson,
Alexander T Rakowsky,
Ale,
Maver,
B. Peterlin,
Ali Torkamani,
Anna Wedell,
Mikael Huss,
A. Alexeyenko,
Jessica M Lindvall,
Måns Magnusson,
Daniel Nilsson,
H. Stranneheim,
F. Taylan,
C. Gilissen,
A. Hoischen,
B. Bon,
H. Yntema,
M. Nelen,
Weidong Zhang,
Jason Sager,
Lu Zhang,
Kathryn Blair,
Deniz Kural,
M. Cariaso,
Greg G Lennon,
Asif Javed,
Saloni Agrawal,
Pauline C Ng,
Komal S Sandhu,
Shuba Krishna,
V. Veeramachaneni,
O. Isakov,
Eran Halperin,
Eitan Friedman,
N. Shomron,
G. Glusman,
J. Roach,
Juan Caballero,
Hannah C Cox,
Denise E. Mauldin,
S. Ament,
L. Rowen,
Daniel R Richards,
F. A. S. Lucas,
M. Gonzalez-Garay,
C. T. Caskey,
Yu Bai,
Ying Huang,
Fang Fang,
Yan Zhang,
Zhengyuan Wang,
Jorge Barrera,
J. M. García-Lobo,
Domingo González-Lamuño
|
0 |
2014 |
0
🐜
|
|
🦁
|
Meta-Prediction of Coronary Artery Disease Risk
9 auth.
Ali Torkamani,
Shang-Fu Chen,
Sang Eun Lee,
H. Sadaei,
Jun-Bean Park,
Ahmed Khattab,
...
Corneliu Henegar,
Nathan Wineinger,
E. Muse
|
0 |
2023 |
0
🦁
|
|
🐜
|
Empowering GWAS Discovery through Enhanced Genotype Imputation
11 auth.
Adriano De Marino,
Abdallah A. Mahmoud,
Sandra Bohn,
Jon Lerga-Jaso,
B. Novković,
Charlie Manson,
...
Salvatore Loguercio,
Andrew Terpolovsky,
Mykyta Matushyn,
Ali Torkamani,
P. G. Yazdi
|
0 |
2023 |
0
🐜
|
