Genetics: Clinical Applications

Genetics: Clinical Applications — Expert Atlas

How it begins

Desde la herencia mendeliana y la citogenética molecular hasta los síndromes de cáncer hereditario, la farmacogenómica, el consejo genético y la interpretación de variantes en la era del genoma: una referencia exhaustiva de la genética traslacional en la práctica médica.

What it covers

1. Inheritance Patterns: Mendelian and Non-Mendelian
2. · 1.1 Autosomal Dominant Inheritance (AD)
3. · 1.2 Autosomal Recessive Inheritance (AR)
4. · 1.3 X-Linked Inheritance
5. · 1.4 Non-Mendelian Inheritance Patterns
6. Clinical Cytogenetics: Karyotype, Aneuploidies and Structural Anomalies
7. · 2.1 Karyotype: Techniques and Nomenclature (ISCN)
8. · 2.2 Autonomic Aneuploidies
9. · 2.3 Sex Chromosome Aneuploidies
10. · 2.4 Structural Chromosomal Anomalies
11. Monogenic Diseases of High Clinical Relevance
12. · 3.1 Selected Autosomal Dominant Diseases
13. · 3.2 Selected Autosomal Recessive Diseases
14. · 3.3 Select X-Linked Diseases
15. Cancer Genetics: Hereditary Syndromes and Oncogenes
16. · 4.1 Fundamentals: Oncogenes, Tumor Suppressors and the Knudson Model
17. · 4.2 Hereditary Cancer Syndromes — The Most Relevant
18. Multifactorial, Polygenic Inheritance and GWAS
19. · 5.1 Multifactor Threshold Model
20. · 5.2 GWAS: Genome-Wide Association Studies
21. · 5.3 Polygenic Risk Scores (PRS)
22. Neurogenetics: Genetically Based Neurological Diseases
23. · 6.1 Hereditary Neurodegenerative Diseases
24. · 6.2 Genetic Epilepsy Syndromes
25. Genetic Counseling: Process, Ethics and Variants of Uncertain Meaning
26. · 7.1 The Genetic Counseling Process
27. · 7.2 Variants of Uncertain Significance (VUS)
28. · 7.3 Incidental / Secondary Findings
29. Prenatal, Preimplantation Diagnosis and Neonatal Screening
30. · 8.1 Integrated Prenatal Screening Strategy
31. · 8.2 Preimplantation Genetic Diagnosis (PGT)
32. · 8.3 Carrier Screening
33. · 8.4 Neonatal Screening (NBS) — Wilson-Jungner Principles
34. Genomic Imprinting, Epigenetics and Chromosomal Syndromes
35. · 9.1 Prader-Willi and Angelman: The Imprinting Paradigm
36. · 9.2 Beckwith-Wiedemann Syndrome (BWS)
37. · 9.3 Epigenetic Syndromes due to Mutations in Chromatin Remodelers
38. Clinical Pharmacogenomics: From Genotype to Prescription
39. · 10.1 ADME Genes and Metabolic Phenotypes
40. · 10.2 Pharmacogenomics by Specialty
41. Interpretation of Genetic Reports and Classification of Variants
42. · 11.1 ACMG/AMP Classification of Germinal Variants
43. · 11.2 Essential Resources and Databases
44. · 11.3 How to Read a Clinical NGS Report