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S
Arbiza L, Duchi S, Montaner D, et al. Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol. 2006;358:1390-404. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16584746.
Arbiza L, Duchi S, Montaner D, et al. Selective pressures at a codon-level predict deleterious mutations in human disease genes. J Mol Biol. 2006;358:1390-404. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16584746.
Dopazo H. Selective Constraints on Human Disease Mutations and Polymorphisms. In: Handbook of Human Molecular Evolution. Handbook of Human Molecular Evolution. UK: Hildegard Kehrer-Sawatzki & David N. Cooper. John Wiley & Sons, Ltd; 2008. Available at: http://eu.wiley.com/WileyCDA/WileyTitle/productCd-0470517468,descCd-description.html.
Dopazo H. Selective Constraints and Human Disease Genes: Evolutionary and Bioinformatic Approaches. In: Encyclopedia of Life Science. Encyclopedia of Life Science. UK: John Wiley & Sons, Ltd.; 2008. doi:10.1002/9780470015902.a0020762.
Al-Shahrour F, Minguez P, Marqués-Bonet T, Gazave E, Navarro A, Dopazo J. Selection upon Genome Architecture: Conservation of Functional Neighborhoods with Changing Genes. PLoS Comput. Biol. 2010;6:e1000953. doi:doi:10.1371/journal.pcbi.1000953.
Lorente-Galdos B, Medina I, Morcillo-Suarez C, et al. Select your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs. International journal of data mining and bioinformatics. 2012;6:324-34. Available at: http://inderscience.metapress.com/content/f76740x8071u513n/.
Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
Antón J, Peña A, Valens M, et al. Salinibacter ruber: genomics and biogeography. In: Adaptation to life in high salt concentrations in Archaea, Bacteria and Eukarya.Vol 9. Adaptation to life in high salt concentrations in Archaea, Bacteria and Eukarya. Dordrecht, Netherlands: Nina Gunde-Cimerman, Ana Plemenitas, and Aharon Oren. Kluwer Academic Publishers; 2005:257-266.
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Martín-Trillo M, Grandío EGonzález, Serra F, et al. Role of tomato BRANCHED1-like genes in the control of shoot branching. The Plant journal : for cell and molecular biology. 2011;67:701-14. doi:10.1111/j.1365-313X.2011.04629.x.
García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
Puig-Butille JAnton, Malvehy J, Potrony M, et al. Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters. Exp Dermatol. 2013;22(7):494-6. doi:10.1111/exd.12177.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Carbonell-Caballero J, Amadoz A, Alonso R, et al. 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.
Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
Del Pozo MGonzález-, Bravo-Gil N, Méndez-Vidal C, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. Am J Med Genet A. 2015;167(7):1597-600. doi:10.1002/ajmg.a.37003.
Marigorta UM, Lao O, Casals F, et al. Recent human evolution has shaped geographical differences in susceptibility to disease. BMC genomics. 2011;12:55.
Loucera C, Carmona R, Esteban-Medina M, et al. Real-world evidence with a retrospective cohort of 15,968 COVID-19 hospitalized patients suggests 21 new effective treatments. Virol J. 2023;20(1):226. doi:10.1186/s12985-023-02195-9.
Loucera C, Peña-Chilet M, Esteban-Medina M, et al. Real world evidence of calcifediol or vitamin D prescription and mortality rate of COVID-19 in a retrospective cohort of hospitalized Andalusian patients. Sci Rep. 2021;11(1):23380. doi:10.1038/s41598-021-02701-5.
León M, Prieto J, Molina-Navarro MMicaela, et al. Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. Cell Death Discov. 2023;9(1):217. doi:10.1038/s41420-023-01531-w.
Q
García-Alcalde F, Okonechnikov K, Carbonell J, et al. Qualimap: evaluating next-generation sequencing alignment data. Bioinformatics (Oxford, England). 2012;28:2678-9. doi:10.1093/bioinformatics/bts503.
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Perez-Gil D, Lopez FJ, Dopazo J, Marin-Garcia P, Rendon A, Medina I. PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources. BMC Bioinformatics. 2019;20(1):159. doi:10.1186/s12859-019-2726-4.