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Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences.

Submitted by rgarcia on Wed, 12/15/2021 - 09:47
Ortuno FM, Loucera C, Casimiro-Soriguer CS, et al. Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. Gigascience. 2021;10(12). doi:10.1093/gigascience/giab078.

Deciphering Genomic Heterogeneity and the Internal Composition of Tumour Activities through a Hierarchical Factorisation Model

Submitted by jdopazo on Sat, 12/04/2021 - 12:31
Carbonell-Caballero J, López-Quílez A, Conesa D, Dopazo J. Deciphering Genomic Heterogeneity and the Internal Composition of Tumour Activities through a Hierarchical Factorisation Model. Mathematics. 2021;9(21):2833. doi:10.3390/math9212833.

Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development.

Submitted by rgarcia on Wed, 11/10/2021 - 08:30
Millán-Esteban D, Peña-Chilet M, García-Casado Z, et al. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development. Cancers (Basel). 2021;13(20). doi:10.3390/cancers13205219.

COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms.

Submitted by jdopazo on Wed, 10/20/2021 - 09:53
Ostaszewski M, Niarakis A, Mazein A, et al. COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms. Mol Syst Biol. 2021;17(10):e10387. doi:10.15252/msb.202110387.

Orchestrating and sharing large multimodal data for transparent and reproducible research.

Submitted by jdopazo on Wed, 10/06/2021 - 11:39
Mammoliti A, Smirnov P, Nakano M, et al. Orchestrating and sharing large multimodal data for transparent and reproducible research. Nat Commun. 2021;12(1):5797. doi:10.1038/s41467-021-25974-w.

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

Submitted by jdopazo on Mon, 09/20/2021 - 17:51
Vázquez-Costa JFrancisco, Payá-Montes M, Martínez-Molina M, et al. Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. doi:10.3389/fnmol.2021.721047.

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.

Submitted by jdopazo on Tue, 09/07/2021 - 09:50
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.