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SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
SMN1 copy-number and sequence variant analysis from next-generation sequencing data. Hum Mutat. 2020;41(12):2073-2077. doi:10.1002/humu.24120.
Transcriptomic Analysis of a Diabetic Skin-Humanized Mouse Model Dissects Molecular Pathways Underlying the Delayed Wound Healing Response. Genes (Basel). 2020;12(1). doi:10.3390/genes12010047.
Transparency and reproducibility in artificial intelligence. Nature. 2020;586(7829):E14-E16. doi:10.1038/s41586-020-2766-y.
Transparency and reproducibility in artificial intelligence. Nature. 2020;586(7829):E14-E16. doi:10.1038/s41586-020-2766-y.
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.
Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.
. A comparison of mechanistic signaling pathway activity analysis methods. Brief Bioinform. 2019;20(5):1655-1668. doi:10.1093/bib/bby040.
Differential metabolic activity and discovery of therapeutic targets using summarized metabolic pathway models. NPJ Syst Biol Appl. 2019;5:7. doi:10.1038/s41540-019-0087-2.
. Precision medicine needs pioneering clinical bioinformaticians. Brief Bioinform. 2019;20(3):752-766. doi:10.1093/bib/bbx144.
A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection. Nature Communications. 2018;9(1). doi:10.1038/s41467-018-06735-8.
A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection. Nature Communications. 2018;9(1). doi:10.1038/s41467-018-06735-8.
A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection. Nature Communications. 2018;9(1). doi:10.1038/s41467-018-06735-8.
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
Gene Expression Integration into Pathway Modules Reveals a Pan-Cancer Metabolic Landscape. Cancer Res. 2018;78(21):6059-6072. doi:10.1158/0008-5472.CAN-17-2705.
Genomics of the origin and evolution of Citrus. Nature. 2018;554(7692):311-316. doi:10.1038/nature25447.
. Models of cell signaling uncover molecular mechanisms of high-risk neuroblastoma and predict disease outcome. Biol Direct. 2018;13(1):16. doi:10.1186/s13062-018-0219-4.
The modular network structure of the mutational landscape of Acute Myeloid Leukemia. PLoS One. 2018;13(10):e0202926. doi:10.1371/journal.pone.0202926.
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.
Roca-Ayats-2017NEJM - GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.pdf (214.03 KB)
. High throughput estimation of functional cell activities reveals disease mechanisms and predicts relevant clinical outcomes. Oncotarget. 2017;8(3):5160-5178. doi:10.18632/oncotarget.14107.
Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 2017;33(22):3511-3517. doi:10.1093/bioinformatics/btx482.
Reference genome assessment from a population scale perspective: an accurate profile of variability and noise. Bioinformatics. 2017;33(22):3511-3517. doi:10.1093/bioinformatics/btx482.