🐜
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Curated variation benchmarks for challenging medically-relevant autosomal genes
37 auth.
Justin Wagner,
Nathan D. Olson,
Lindsay Harris,
Jennifer McDaniel,
Haoyu Cheng,
Arkarachai Fungtammasan,
Yih-Chii Hwang,
Richa Gupta,
A. Wenger,
W. Rowell,
Ziad Khan,
J. Farek,
Yiming Zhu,
Aishwarya Pisupati,
M. Mahmoud,
...
Chunlin Xiao,
B. Yoo,
S. M. Sahraeian,
Danny E. Miller,
D. Jáspez,
J. Lorenzo-Salazar,
A. Muñoz-Barrera,
L. A. Rubio-Rodríguez,
C. Flores,
G. Narzisi,
U. S. Evani,
Wayne E. Clarke,
Joyce Lee,
C. Mason,
S. Lincoln,
K. Miga,
Mark T. W. Ebbert,
Alaina Shumate,
Heng Li,
Chen-Shan Chin,
J. Zook,
F. Sedlazeck
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6 |
2021 |
6 🐜
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🐜
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Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
37 auth.
Justin Wagner,
Nathan D. Olson,
Lindsay Harris,
Jennifer McDaniel,
Haoyu Cheng,
Arkarachai Fungtammasan,
Yih-Chii Hwang,
Richa Gupta,
A. Wenger,
W. Rowell,
Ziad Khan,
J. Farek,
Yiming Zhu,
Aishwarya Pisupati,
M. Mahmoud,
...
Chunlin Xiao,
B. Yoo,
S. M. Sahraeian,
Danny E. Miller,
D. Jáspez,
J. Lorenzo-Salazar,
A. Muñoz-Barrera,
L. A. Rubio-Rodríguez,
C. Flores,
G. Narzisi,
U. S. Evani,
Wayne E. Clarke,
Joyce Lee,
C. Mason,
S. Lincoln,
K. Miga,
Mark T. W. Ebbert,
Alaina Shumate,
Heng Li,
Chen-Shan Chin,
J. Zook,
F. Sedlazeck
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4 |
2021 |
4 🐜
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🐜
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xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments
14 auth.
J. Farek,
Daniel Hughes,
W. Salerno,
Yiming Zhu,
Aishwarya Pisupati,
A. Mansfield,
O. Krasheninina,
A. English,
G. Metcalf,
E. Boerwinkle,
...
D. Muzny,
R. Gibbs,
Ziad Khan,
F. Sedlazeck
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0 |
2022 |
0 🐜
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