PhenoExam: gene set analyses through integration of different phenotype databases

Authors: Alejandro Cisterna, Aurora González-Vidal, Daniel Ruiz, Jordi Ortiz, Alicia Gómez-Pascual, Zhongbo Chen, Mike Nalls, Faraz Faghri, John Hardy, Irene Díez, Paolo Maietta, Sara Álvarez, Mina Ryten, Juan A. Botía

Source: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-19 (2022)

Subject Terms: Phenotype Enrichment Tool, Shiny, Epilepsy, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2105

Access URL: https://doaj.org/article/43515d62e44a4e99a3d51759ad8602cb

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data

Authors: Javier Lanillos, Marta Carcajona, Paolo Maietta, Sara Alvarez, Cristina Rodriguez-Antona

Source: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-9 (2022)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/2e37d58089b04e1999d8939f1aaac0f5

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