RECURSOS

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Otros materiales y recursos sobre las tecnologías ómicas están a su disposición aquí.

BOLETÍN GenoMed:

En formato PDF, editado por la Cátedra Multidisciplinaria de Medicina Genómica, de la Universidad de Ciencias Médicas de Las Tunas.

- Año 2019;1(2).

- Año 2019;1(1).

 

SUPERCURSOS:

Introducción a la Bioinformática. En formato .ppt, la descarga redirige al sitio de la Universidad Virtual de la Salud de Cuba.

Bioinformatics. WHO Collaborating Center University of Pittsburgh.

Bioinformatics II. WHO Collaborating Center University of Pittsburgh.

Finishing the Human Genome. WHO Collaborating Center University of Pittsburgh.

Bias in Studies of the Human Genome. WHO Collaborating Center University of Pittsburgh.

Genome Databases. WHO Collaborating Center University of Pittsburgh.

Genome Databases – 2. WHO Collaborating Center University of Pittsburgh.

Genome-Wide Association Studies: Linking Genes to Disease. Part I. WHO Collaborating Center University of Pittsburgh.

Genome-Wide Association Studies: Linking Genes to Disease. Part II. WHO Collaborating Center University of Pittsburgh.

Genomics and Bioinformatics. WHO Collaborating Center University of Pittsburgh.

Genomics Bioinformatics & Medicine. WHO Collaborating Center University of Pittsburgh.

Human Genome Project. Part I. WHO Collaborating Center University of Pittsburgh.

Human Genome Project. Part II. WHO Collaborating Center University of Pittsburgh.

Next Generation Sequencing and Human Genome Databases. WHO Collaborating Center University of Pittsburgh.

Personal Genomics. WHO Collaborating Center University of Pittsburgh.

Pharmacogenomics. WHO Collaborating Center University of Pittsburgh.

Sequencing the Human Genome. WHO Collaborating Center University of Pittsburgh.

Sequence Alignment. WHO Collaborating Center University of Pittsburgh.

 

CURSOS EN LÍNEA:

El Proyecto Genoma Humano, 10 años después: mitos y realidades. Instituto Roche, España. Celebrado los días 8 y 9 de abril de 2011. Presentaciones contienen audio.

Bioinformática y análisis genómicos en el estudio de enfermedades raras. Conferencia dictada por Joaquín Dopazo, Director de Genómica Funcional, Centro de Investigación Príncipe Felipe, Valencia, España. Hospedado por Instituto Roche, España. Presentación contiene audio.

The Human Genome: A Decade of Discovery, Creating a Healthy Future. NHGRI, EEUU. Junio 7, 2010.

Understanding the Human Genome Project. NHGRI, EEUU. Noviembre 24, 2010.

The Human Genome Project and Beyond. US Department of Energy. Junio 2008.

Genómica y Proteómica en Clínica. Instituto Roche, España. 27 de noviembre de 2007.

Genome-Wide Association Studies for the Rest of Us: Adding Genome-Wide Association to Population Studies. Boston, Mass., EEUU. Junio 22, 2007.

 

COLECCIONES Y OTROS:

Microbiota intestinal. Nature Outlook January, 2020.

CRISPR/Cas Collection. Nucleic Acids Research, 2016.

Precision Cancer Medicine. Genome Medicine special issue, November 2016.

Precision medicine. Nature 2016;537(7619_supp):S49-S96.

The Biology of Human Diseases, as Revealed Through Genomics. Genome Biology November-December 2016.

Genome Editing in Haematology. The Blood Journal, Review Series May 26, 2016.

Pharmacogenetics. JAMA Collections, 2015.

Single-Cell Omics. Genome Biology.

Genome editing. Genome Biology.

Immunogenomics in health and disease. Colección de Genome Medicine.

Single-cell omics. Serie de Nature Genetics Reviews.

Single Cell Genomics. PLOS ONE 2015.

Precision Medicine Initiative.  Página informativa en sitio de Institutos Nacionales de Salud.

Genome editing. Nature Outlook 2015;528(7580_supp):S1-S48.

Big data in biomedicine. Special Nature 2015;527(7576_supp):S1-S19.

Computational biology and bioinformatics. Nature subject area.

The 1000 Genomes Project. Nature Collection, 2015. Nature Publishing Group.

Genomics of infectious diseases special issue. BioMedCentral. Published: 3 November 2014. Last updated: 17 February 2015.

Applications of next-generation sequencing. Nature, 2009 – 2015.

Computational Tools.  Nature, 2010 – 2014.

Clinical applications of next-generation sequencing. Nature, 2013.

Participatory Medicine. Genome Medicine, 20 December 2013.

Cancer bioinformatics: bioinformatic methods, network biomarkers and precision medicine. BioMedCentral, 1 May 2012. Actualizado: 26 November 2012.

The Human Genome at Ten. Nature, 2011.

Milestones in DNA Technologies. Nature, 2011.

Human Genome Resources. NCBI.

Genomes and Disease. Nature, 2010.

The ‘Omics Age. Nature, 2010.

Genomics. Nature, 2010.

The Human Genome Project. Nature, 2010.

Genomics of Emerging Infectious Diseases. PLOS Biology 2009.

Prokaryotic Genome Collection. PLOS ONE 2009.

Education. PLOS Computational Biology, 2006.

- Nature issue 15 February 2001 (the human genome)

REGULACIONES:

- Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC, ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2020; DOI: 10.1038/s41436-019-0731-7.

- Rajagopal PS, Nielsen S, Olopade OI. USPSTF Recommendations for BRCA1 and BRCA2 Testing in the Context of a Transformative National Cancer Control Plan. JAMA Netw Open. 2019;2(8):e1910142.

- ACMG Board of Directors. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2019;21(1467–1468).

- Bombard Y, Brothers KB, Fitzgerald-Butt S, Garrison NA, Jamal L, James CA, et alThe Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. Am J Hum Gen 2019; DOI: https://doi.org/10.1016/j.ajhg.2019.02.025.

- Bartley AN, Washington MK, Colasacco C, Ventura CB, Ismaila N, Benson AB, et al. HER2 Testing and Clinical Decision Making in Gastroesophageal Adenocarcinoma: Guideline From the College of American Pathologists, American Society for Clinical Pathology, and the American Society of Clinical Oncology. Journal of Clinical Oncology 2016; doi: 10.1200/JCO.2016.69.4836.

- Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, et al. Recommendations for the integration of genomics into clinical practice. Genetics in Medicine 2016;18:1075–1084.

- Kleinberger J, Maloney KA, Pollin TI, Bone LJ. An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants. Genetics in Medicine 2016;18:1165.

- Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine 2016;18:1056–1065.

- Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genetics in Medicine 2016; doi:10.1038/gim.2016.190.

- Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genetics in Medicine 2016;18:1258–1268.

- Petrone J. FDA wades into sequencing-based diagnostics regulation. Nature Biotechnology 2016;34:681–682.

- Altman RB, Prabhu S, Sidow A, Zook JM, Goldfeder R, Litwack D, et al. A research roadmap for next-generation sequencing informatics. Science Translational Medicine  20 Apr 2016;8(335):335ps10.

- ACMG Board of Directors. Direct-to-consumer genetic testing: a revised position statement of the American College of Medical Genetics and Genomics.  Genetics in Medicine 2016;18:207–208.

- An overview of recommendations and translational milestones for genomic tests in cancer. Genetics in Medicine 2015;17:431–440.

- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 2015;17:405–423.

- Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine 2015;17:505–507.

- ACMG Board of Directors. Scope of practice: a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2015;17:e3.

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