Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Vanessa Aguiar Pulido"'
Autor:
Carla Guerra Tort, Vanessa Aguiar Pulido, Victoria Suárez Ulloa, Francisco Docampo Boedo, José Manuel López Gestal, Javier Pereira Loureiro
Publikováno v:
Proceedings, Vol 54, Iss 1, p 60 (2020)
The exploitation of electronic health records (EHRs) has multiple utilities, from predictive tasks and clinical decision support to pattern recognition. Artificial Intelligence (AI) allows to extract knowledge from EHR data in a practical way. In thi
Externí odkaz:
https://doaj.org/article/144fb8be42c5497084a1595d64ec6328
Autor:
Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are bein
Externí odkaz:
https://doaj.org/article/147380ca096e4bd8a039db9e64e5a8e1
Autor:
Paul Wolujewicz, Vanessa Aguiar-Pulido, Gaurav Thareja, Karsten Suhre, Olivier Elemento, Richard H. Finnell, M. Elizabeth Ross
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101894- (2024)
Purpose: Spina bifida (SB) arises from complex genetic interactions that converge to interfere with neural tube closure. Understanding the precise patterns conferring SB risk requires a deep exploration of the genomic networks and molecular pathways
Externí odkaz:
https://doaj.org/article/9770c66692e4487e98e2006229af758c
Autor:
Mariana G. Ferrarini, Avantika Lal, Rita Rebollo, Andreas J. Gruber, Andrea Guarracino, Itziar Martinez Gonzalez, Taylor Floyd, Daniel Siqueira de Oliveira, Justin Shanklin, Ethan Beausoleil, Taneli Pusa, Brett E. Pickett, Vanessa Aguiar-Pulido
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-15 (2021)
Ferrarini & Lal et al. developed a novel bioinformatic pipeline to explore how SARS-CoV-2 interacts with human respiratory cells using public available host gene expression and viral genome sequence data. Several human genes and proteins were predict
Externí odkaz:
https://doaj.org/article/7db6be240b2d4d2b963adb464003e329
Publikováno v:
BMC Bioinformatics, Vol 20, Iss S11, Pp 1-9 (2019)
Abstract Background Computing centrality is a foundational concept in social networking that involves finding the most “central” or important nodes. In some biological networks defining importance is difficult, which then creates challenges in fi
Externí odkaz:
https://doaj.org/article/8fc8387b7b67447697221c8f225a82e9
Publikováno v:
BMC Bioinformatics, Vol 18, Iss S8, Pp 1-10 (2017)
Abstract Background The notion of centrality is used to identify “important” nodes in social networks. Importance of nodes is not well-defined, and many different notions exist in the literature. The challenge of defining centrality in meaningful
Externí odkaz:
https://doaj.org/article/b3a2029d56be40e9a84611946d813149
Autor:
Xiao Han, Xuanye Cao, Vanessa Aguiar‐Pulido, Wei Yang, Menuka Karki, Paula Andrea Pimienta Ramirez, Robert M. Cabrera, Ying Linda Lin, Bogdan J. Wlodarczyk, Gary M. Shaw, M. Elizabeth Ross, Cuilian Zhang, Richard H. Finnell, Yunping Lei
Publikováno v:
Human Mutation. 43:2021-2032
Neural tube defects (NTDs) are congenital malformations resulting from abnormal embryonic development of the brain, spine, or spinal column. The genetic etiology of human NTDs remains poorly understood despite intensive investigation. CIC, homolog of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3060ba4b02940c177d004ea1418310c
https://doi.org/10.1002/humu.24460
https://doi.org/10.1002/humu.24460
Autor:
Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido
Tandem repeats (TRs) are polymorphic sequences of DNA that are composed of repeating units of motifs, whose lengths can vary depending on the type of TR. Expansions of TRs are responsible for approximately 50 monogenic diseases, compared to over 4,30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d5659c05866d6bcab29a2087f056101
https://doi.org/10.1101/2023.03.22.533484
https://doi.org/10.1101/2023.03.22.533484
Autor:
Michael Campos, Trevor Cickovski, Mitch Fernandez, Melita Jaric, Adam Wanner, Gregory Holt, Elio Donna, Eliana Mendes, Eugenia Silva-Herzog, Lisa Schneper, Jonathan Segal, David Moraga Amador, Juan Daniel Riveros, Vanessa Aguiar-Pulido, Santanu Banerjee, Matthias Salathe, Kalai Mathee, Giri Narasimhan
The lung microbiome impacts on lung function, making any smoking-induced changes in the lung microbiome potentially significant. The complex co-occurrence and co-avoidance patterns between the bacterial taxa in the lower respiratory tract (LRT) micro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04eba335f7cb192947d4311833fe8a55
https://doi.org/10.1099/acmi.0.000497.v2
https://doi.org/10.1099/acmi.0.000497.v2
Autor:
Jerry Bonnell, Melanie Xia, Lee Wall, York Eggleston, Mitsunori Ogihara, Vanessa Aguiar-Pulido
Publikováno v:
2022 21st IEEE International Conference on Machine Learning and Applications (ICMLA).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::782709c52ce809229824d9aeaf5c6a7f
https://doi.org/10.1109/icmla55696.2022.00164
https://doi.org/10.1109/icmla55696.2022.00164