Kymberleigh A Pagel
Kymberleigh A Pagel
Assistant Research Scientist, Johns Hopkins
E-mail megerősítve itt: jhu.edu
Cím
Hivatkozott rá
Hivatkozott rá
Év
MutPred2: inferring the molecular and phenotypic impact of amino acid variants
V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ...
BioRxiv, 134981, 2017
1232017
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ...
Nature communications 11 (1), 1-13, 2020
362020
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
R Daneshjou, Y Wang, Y Bromberg, S Bovo, PL Martelli, G Babbi, ...
Human mutation 38 (9), 1182-1192, 2017
342017
When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants
KA Pagel, V Pejaver, GN Lin, HJ Nam, M Mort, DN Cooper, J Sebat, ...
Bioinformatics 33 (14), i389-i398, 2017
322017
High-throughput prediction of MHC class I and II neoantigens with MHCnuggets
XM Shao, R Bhattacharya, J Huang, IKA Sivakumar, C Tokheim, L Zheng, ...
Cancer immunology research 8 (3), 396-408, 2020
302020
Integrated informatics analysis of cancer-related variants
KA Pagel, R Kim, K Moad, B Busby, L Zheng, C Tokheim, M Ryan, ...
JCO clinical cancer informatics 4, 310-317, 2020
152020
MutPred2: inferring the molecular and phenotypic impact of amino acid variants. bioRxiv 134981
V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ...
URL: https://www. biorxiv. org/content/early/2017/05/09/134981, 2017
142017
Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome
KA Pagel, D Antaki, AJ Lian, M Mort, DN Cooper, J Sebat, LM Iakoucheva, ...
PLoS computational biology 15 (6), e1007112, 2019
122019
The loss and gain of functional amino acid residues is a common mechanism causing human inherited disease
J Lugo-Martinez, V Pejaver, KA Pagel, S Jain, M Mort, DN Cooper, ...
PLoS computational biology 12 (8), e1005091, 2016
122016
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ...
Human mutation 40 (9), 1546-1556, 2019
92019
MutPred2: inferring the molecular and phenotypic impact of amino acid variants. BioRxiv. 2017; 134981
V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ...
7
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
M Carraro, AM Monzon, L Chiricosta, F Reggiani, MC Aspromonte, ...
Human mutation 40 (9), 1330-1345, 2019
52019
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
G McInnes, R Daneshjou, P Katsonis, O Lichtarge, R Srinivasan, S Rana, ...
Human mutation 40 (9), 1314-1320, 2019
52019
The sequencing and interpretation of the genome obtained from a Serbian individual
W Mohammed Ismail, KA Pagel, V Pejaver, SV Zhang, S Casasa, M Mort, ...
PloS one 13 (12), e0208901, 2018
32018
OpenCRAVAT, an open source collaborative platform for the annotation of human genetic variation
KA Pagel, R Kim, K Moad, B Busby, L Zheng, M Hynes-Grace, C Tokheim, ...
bioRxiv, 794297, 2019
12019
The Johns Hopkins Molecular Tumor Board Precision Oncology elective for Medical Oncology fellows.
K Marrone, J Tao, JVL Canzoniero, P Ghanem, E Nizialek, K Pagel, ...
Journal of Clinical Oncology 39 (15_suppl), 11035-11035, 2021
2021
39. Integrated informatics analysis of cancer-related variants with OpenCRAVAT
K Pagel, R Kim, K Moad, B Busby, L Zheng, C Tolkheim, M Ryan, ...
Cancer Genetics 244, 15, 2020
2020
Abstract A33: High-throughput prediction of MHC Class I and Class II neoantigens with MHCnuggets
XM Shao, R Bhattacharya, J Huang, A Sivakumar, C Tokheim, L Zheng, ...
Cancer Immunology Research 8 (3 Supplement), A33-A33, 2020
2020
Computational Assessment of the Molecular Mechanisms Impacted by Genetic Variation
KA Pagel
Indiana University, 2018
2018
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Cikkek 1–19