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Genetics & Genomics
Leggi un genoma e capisci cosa significano le varianti.
Il corso completo
- moduli
- 63
- argomenti
- 700
- min per lezione
- 15
45%
del carico globale di malattia attuale si potrebbe affrontare con la scienza già concepibile oggi.
Quello che saprai fare.
Risolvi incroci, alberi genealogici e mappe di associazione
Tappa 1 · Foundations of Inheritance
Prevedi l'effetto di una mutazione
Tappa 2 · Mutation & Variation
Valuta copertura e qualità delle varianti chiamate
Tappa 4 · Genomic Technologies
Interpreta risultati GWAS e punteggi poligenici
Tappa 5 · Population & Quantitative Genetics
Classifica le varianti sulla scala a cinque livelli
Tappa 6 · Functional & Clinical Genomics
Progetta uno studio genetico solido
Tappa 7 · Practicum & Research Project
Sette tappe.Una salita costante.
I piselli di Mendel il primo giorno. Il genoma di un paziente alla fine.
63moduli
in 7 tappe
700argomenti
≈ 11 per modulo
≈175ore
in lezioni da 15 minuti
≈23mesi
≈11mesi
≈6mesi
per finire l'intero corso
- 1
Foundations of Inheritance
Come i tratti passano da genitore a figlio
12 moduli · 133 argomenti · ≈ 33 h
- 2
Mutation & Variation
Da dove viene la variazione
9 moduli · 100 argomenti · ≈ 25 h
- 3
Genome Architecture & Regulation
Struttura, interruttori ed epigenetica
7 moduli · 74 argomenti · ≈ 19 h
- 4
Genomic Technologies
Gli strumenti che leggono il DNA
5 moduli · 60 argomenti · ≈ 15 h
- 5
Population & Quantitative Genetics
I geni su intere popolazioni
12 moduli · 133 argomenti · ≈ 33 h
- 6
Functional & Clinical Genomics
Dal genoma alla funzione e alla clinica
14 moduli · 158 argomenti · ≈ 40 h
- 7
Practicum & Research Project
Esercizi, poi la progettazione di uno studio
4 moduli · 42 argomenti · ≈ 11 h
Mesi
04812160246801234
MesiTraguardo · ≈ 23 mesi · ≈ 11 mesi · ≈ 6 mesi
Ore e mesi sono stime: una lezione da 15 minuti per argomento, ogni giorno.
Ogni modulo.Ogni argomento.
I titoli di moduli e argomenti restano in inglese, la lingua in cui lavora questo settore.
Tappa 1
Foundations of Inheritance
Come i tratti passano da genitore a figlio
12 moduli · 133 argomenti
1Foundations of Genetic Reasoning10 argomenti
- Genetics and Genomics as Complementary Fields
- Heredity, Variation, and Biological Continuity
- Genetic Questions at Organism, Family, Population, and Genome Scales
- Genotype, Phenotype, and the Environment
- Transmission Genetics and Molecular Genetic Evidence
- Observational and Experimental Approaches to Inheritance
- Genetic Models, Predictions, and Falsifiable Hypotheses
- Association, Mechanism, and Causation in Genetics
- Levels of Evidence in Genetic Explanations
- Scope and Limitations of Genetic Determinism
2Genes, Alleles, and Genotypes12 argomenti
- Genes as Functional and Hereditary Units
- Loci, Alleles, and Allelic Diversity
- Genotypes and Genotype Notation
- Homozygosity, Heterozygosity, and Hemizygosity
- Haploid, Diploid, and Polyploid Genomes
- Homologous Chromosomes and Sister Chromatids
- Haplotypes and Diplotypes
- Cis and Trans Configurations of Variants
- Reference Alleles and Alternative Alleles
- Wild-Type, Mutant, and Ancestral Alleles
- Germline Genomes and Somatic Genomes
- Genetic Background and the Meaning of an Allelic Effect
3Probability and Statistical Reasoning in Genetics11 argomenti
- Probability Rules for Genetic Events
- Independent and Conditional Probabilities
- Bayes' Theorem in Inheritance Problems
- Binomial Models for Offspring Outcomes
- Multinomial Models for Genetic Crosses
- Expected Ratios and Sampling Variation
- Confidence Intervals for Genetic Proportions
- Goodness-of-Fit Tests for Segregation Models
- Likelihoods and Comparison of Genetic Hypotheses
- Statistical Significance and Biological Effect Size
- Independence, Pseudoreplication, and the Unit of Observation
4Chromosomes, Meiosis, and Genetic Transmission12 argomenti
- Chromosome Structure Relevant to Inheritance
- Chromosome Number, Ploidy, and DNA Content
- Centromeres, Telomeres, and Chromosome Identity
- Homolog Pairing and Meiotic Segregation
- Crossing Over and Chiasma Formation
- Sister Chromatid Cohesion and Segregation Fidelity
- Reductional and Equational Divisions
- Independent Assortment and Chromosome Combinations
- Gamete Formation and Transmission of Alleles
- Meiotic Recombination and Gene Conversion
- Transmission Distortion and Meiotic Drive
- Connecting Chromosome Behavior to Genetic Ratios
5Mendelian Inheritance and Genetic Crosses10 argomenti
- Mendel's Experimental Logic
- Monohybrid Crosses and the Law of Segregation
- Dihybrid Crosses and Independent Assortment
- Punnett Squares and Branching Probability Methods
- Testcrosses and Inference of Unknown Genotypes
- Backcrosses and Recovery of Parental Genotypes
- Reciprocal Crosses and Parent-Specific Effects
- Multilocus Crosses with Independently Assorting Genes
- Lethal Genotypes and Modified Segregation Ratios
- Distinguishing Biological Deviations from Sampling Error
6Allelic Relationships and Dominance9 argomenti
- Complete Dominance and Recessivity
- Incomplete Dominance and Intermediate Phenotypes
- Codominance and Simultaneous Allelic Expression
- Multiple Alleles at a Single Locus
- Dominance as a Relationship Between Alleles
- Trait and Measurement Dependence of Dominance
- Overdominance and Heterozygote Phenotypes
- Dominance Relationships Across an Allelic Series
- Distinguishing Dominance from Allele Frequency and Fitness
7Gene Interactions and Genetic Pathway Analysis11 argomenti
- Interactions Between Alleles and Between Loci
- Complementary Gene Action
- Recessive and Dominant Epistasis
- Duplicate and Redundant Gene Functions
- Suppressor and Enhancer Interactions
- Synthetic Lethality and Synthetic Sickness
- Additive and Nonadditive Genetic Effects
- Double-Mutant Analysis and Pathway Ordering
- Conditional Interpretation of Epistasis Experiments
- Pleiotropy and Multiple Phenotypic Outputs
- Distinguishing Genetic Interactions from Physical Interactions
8Pedigrees and Inheritance Patterns12 argomenti
- Pedigree Symbols and Family Data Structure
- Autosomal Dominant Inheritance
- Autosomal Recessive Inheritance
- X-Linked Recessive Inheritance
- X-Linked Dominant Inheritance
- Y-Linked and Mitochondrial Transmission Patterns
- Carrier Inference and Conditional Genotype Probabilities
- Consanguinity and Shared Ancestral Alleles
- Incomplete Family Information and Uncertain Phenotypes
- De Novo Variants in Apparently Sporadic Cases
- Ascertainment Bias in Family Studies
- Comparing Alternative Explanations for a Pedigree
9Sex Determination and Sex-Linked Inheritance11 argomenti
- Chromosomal and Genetic Sex-Determination Systems
- XY, ZW, and Haplodiploid Inheritance Systems
- Sex-Linked and Sex-Influenced Traits
- Sex-Limited Expression of Autosomal Traits
- Pseudoautosomal Regions and Recombination
- X-Chromosome Inactivation and Cellular Mosaicism
- Skewed X Inactivation and Phenotypic Effects
- Escape from X Inactivation
- Dosage Compensation Across Model Organisms
- Y-Chromosome Variation and Transmission
- Sex-Chromosome Evolution and Gene Content
10Penetrance, Expressivity, and Phenotypic Variation10 argomenti
- Complete and Incomplete Penetrance
- Variable Expressivity Within Families
- Age-Dependent Penetrance and Onset
- Sex-Dependent Effects of Genetic Variants
- Modifier Genes and Genetic Background Effects
- Environmental Modification of Genetic Phenotypes
- Phenocopies and Alternative Causes of Similar Traits
- Genetic Heterogeneity and Phenotypic Heterogeneity
- Stochastic Variation and Developmental Context
- Thresholds, Measurement Choices, and Phenotype Classification
11Linkage and Classical Genetic Mapping13 argomenti
- Linked Genes and Departures from Independent Assortment
- Coupling and Repulsion Phases
- Recombination Frequency and Genetic Distance
- Two-Point Testcross Mapping
- Three-Point Crosses and Gene Order
- Double Crossovers and Undetected Recombination
- Crossover Interference and Coefficients of Coincidence
- Mapping Functions and Their Assumptions
- Tetrad Analysis in Genetic Mapping
- Ordered Tetrads and Centromere Mapping
- Sex-Specific and Region-Specific Recombination Rates
- Genetic Maps and Physical Maps
- Family Linkage Evidence and LOD Scores
12Mitochondrial and Plastid Genetics12 argomenti
- Nuclear and Extranuclear Inheritance
- Mitochondrial Genome Organization
- Plastid Genome Organization
- Maternal, Paternal, and Biparental Organelle Transmission
- Homoplasmy and Heteroplasmy
- Replicative Segregation of Organelle Genomes
- Mitochondrial Genetic Bottlenecks
- Tissue-Specific Heteroplasmy and Threshold Effects
- Nuclear-Organelle Genetic Interactions
- Organelle Recombination and Genome Rearrangements
- Nuclear Insertions of Organelle DNA and Interpretation Pitfalls
- Distinguishing Cytoplasmic Inheritance from Maternal Effects
Tappa 2
Mutation & Variation
Da dove viene la variazione
9 moduli · 100 argomenti
13Mutation Origins and Mutation Rates12 argomenti
- Mutation as a Source of New Genetic Variation
- Spontaneous and Induced Mutations
- Replication Errors and Mutational Outcomes
- DNA Damage, Repair Defects, and Mutation Spectra
- Transition and Transversion Mutations
- Sequence Context and Mutation Hotspots
- Germline and Somatic Mutation Processes
- Mutation Rate, Mutation Frequency, and Variant Frequency
- Per-Base, Per-Generation, and Per-Cell-Division Rates
- Parental Age Effects on De Novo Variation
- Fluctuation Tests and the Timing of Mutations
- Selection and Detection Bias in Mutation Measurements
14Sequence Variants and Functional Consequences13 argomenti
- Single-Nucleotide Variants and Small Insertions or Deletions
- Synonymous and Missense Variants
- Nonsense Variants and Premature Termination Codons
- Frameshift and In-Frame Coding Variants
- Start-Loss, Stop-Loss, and Translation-Initiation Effects
- Canonical Splice-Site and Splice-Region Variants
- Deep Intronic Variants and Cryptic Splicing
- Promoter, Enhancer, and Untranslated-Region Variants
- RNA Stability and Transcript-Level Consequences
- Nonsense-Mediated Decay in Variant Interpretation
- Transcript Dependence of Predicted Consequences
- Molecular Consequence Versus Phenotypic Effect
- Neutral, Deleterious, and Beneficial Effects in Context
15Repeat Expansions and Unstable Alleles10 argomenti
- Tandem Repeats and Repeat-Length Variation
- Microsatellites and Minisatellites
- Germline and Somatic Repeat Instability
- Coding and Noncoding Repeat Expansions
- Anticipation and Intergenerational Changes in Phenotype
- Repeat-Length Thresholds and Intermediate Alleles
- Parent-of-Origin Effects in Repeat Expansion Disorders
- Repeat Interruptions and Allele Stability
- Toxic RNA, Altered Proteins, and Silencing as Genetic Mechanisms
- Assay Limitations in Detecting Expanded Repeats
16Structural Variation and Gene Dosage12 argomenti
- Deletions, Duplications, Inversions, and Translocations
- Copy-Number Variants and Copy-Neutral Rearrangements
- Segmental Duplications and Recurrent Rearrangement Regions
- Nonallelic Homologous Recombination
- Replication-Based and End-Joining Rearrangement Mechanisms
- Breakpoint Position and Disruption of Gene Function
- Gene Dosage and Dosage-Sensitive Regions
- Regulatory Rewiring and Position Effects
- Fusion Genes and Novel Genomic Junctions
- Complex Structural Variants
- Structural Variant Haplotype and Inheritance Context
- Distinguishing Variant Size from Biological Impact
17Chromosome Abnormalities and Their Inheritance11 argomenti
- Aneuploidy and Changes in Chromosome Number
- Nondisjunction in Meiosis I and Meiosis II
- Postzygotic Chromosome Segregation Errors
- Monosomy, Trisomy, and Chromosomal Dosage
- Polyploidy and Whole-Genome Duplication
- Autopolyploid and Allopolyploid Inheritance
- Balanced and Unbalanced Chromosome Rearrangements
- Reciprocal and Robertsonian Translocations
- Inversions and Recombinant Chromosome Outcomes
- Chromosome Segregation in Rearrangement Carriers
- Cytogenetic Findings and Their Inheritance Implications
18Mosaicism, Chimerism, and Somatic Variation10 argomenti
- Genetic Mosaicism and Postzygotic Variant Origin
- Somatic, Germline, and Gonosomal Mosaicism
- Chimerism and Genetically Distinct Cell Origins
- Developmental Timing and Variant Distribution
- Variant Allele Fraction and Cellular Composition
- Tissue Sampling and Undetected Mosaicism
- Clonal Expansion and Somatic Selection
- Mosaic Copy-Number and Chromosome Changes
- Parental Mosaicism and Recurrence Considerations
- Lineage Relationships Inferred from Shared Somatic Variants
19Allelic Series and Inference of Gene Function11 argomenti
- Null, Hypomorphic, and Hypermorphic Alleles
- Neomorphic Alleles and Novel Gene Activities
- Loss-of-Function and Gain-of-Function Mechanisms
- Haploinsufficiency and Dosage Sensitivity
- Dominant-Negative Effects and Antimorphic Alleles
- Conditional and Temperature-Sensitive Alleles
- Allelic Strength and Phenotypic Severity
- Complementation Tests and Complementation Groups
- Intragenic Complementation and Interpretive Exceptions
- Genetic Rescue and Specificity of Functional Evidence
- Redundancy, Compensation, and Apparently Silent Phenotypes
20Genetic Screens and Genetic Evidence11 argomenti
- Forward and Reverse Genetic Reasoning
- Phenotype-First and Gene-First Study Designs
- Selection Screens and Observation-Based Screens
- Primary Hits and Independent Confirmation
- Recessive and Dominant Screening Strategies
- Modifier Screens and Genetic Interaction Discovery
- Saturation, Coverage, and Undetected Gene Functions
- Essential Genes and Conditional Phenotype Assessment
- Background Mutations and Confounding Alleles
- Independent Alleles and Orthogonal Functional Evidence
- Interpreting Perturbation Results Without Overstating Causality
21Model Systems and Experimental Genetic Designs10 argomenti
- Choosing Model Systems for Genetic Questions
- Haploid and Diploid Models in Genetic Analysis
- Yeast Tetrads and Eukaryotic Inheritance Studies
- Bacterial Recombination as a Genetic Mapping System
- Phage Crosses and Fine-Structure Genetic Analysis
- Drosophila Crosses and Chromosome-Based Genetic Tools
- Nematode and Vertebrate Models of Gene Function
- Plant Genetics and the Analysis of Polyploid Traits
- Human Families and Natural Genetic Variation
- Conservation and Limits of Cross-Species Genetic Inference
Tappa 3
Genome Architecture & Regulation
Struttura, interruttori ed epigenetica
7 moduli · 74 argomenti
22Genome Architecture and Organization12 argomenti
- Genome Size and Gene Number
- Coding and Noncoding Genome Fractions
- Unique, Repetitive, and Low-Complexity Sequences
- Gene Density and Regional Genome Composition
- Introns, Exons, and Intergenic Regions
- Gene Clusters and Distributed Gene Families
- Segmental Duplications and Pseudogenes
- Centromeric, Telomeric, and Subtelomeric Regions
- Sex Chromosomes and Organelle Genomes in Genome Surveys
- Genome Compartmentalization and Functional Constraints
- Genome Size Variation Across Lineages
- The C-Value Paradox and Limits of Genome Complexity Measures
23Gene Models, Transcripts, and Functional Annotation11 argomenti
- Gene Boundaries and Alternative Definitions of a Gene
- Protein-Coding and Noncoding Gene Models
- Transcript Isoforms and Alternative Exon Usage
- Alternative Promoters and Transcript Ends
- Overlapping Genes and Antisense Transcripts
- Readthrough Transcripts and Complex Locus Structure
- Processed and Unprocessed Pseudogenes
- Evidence Supporting a Gene Annotation
- Predicted Functions and Experimentally Supported Functions
- Tissue-Specific Transcript Relevance
- Annotation Uncertainty and Changes Between Releases
24Mobile Elements and Genome Restructuring9 argomenti
- Transposable Elements as Components of Genomes
- DNA Transposons and Retrotransposons
- Autonomous and Nonautonomous Elements
- Endogenous Retroviral Sequences
- Insertional Variation and Gene Disruption
- Mobile Elements as Sources of Regulatory Sequences
- Host Suppression and Heritable Element Activity
- Recombination Between Repetitive Elements
- Evolutionary Consequences of Transposable Element Expansion
25Epigenetic Variation and Inheritance10 argomenti
- Genetic and Epigenetic Sources of Phenotypic Variation
- DNA Methylation as a Genomic Feature
- Chromatin States and Heritable Expression Differences
- Mitotic Maintenance of Epigenetic States
- Epigenetic Reprogramming Across Generations
- Epialleles and Metastable Epialleles
- Genetic Control of Epigenetic Variation
- Paramutation and Non-Mendelian Allelic Interactions
- Intergenerational and Transgenerational Effects
- Evidence Standards for Transgenerational Epigenetic Inheritance
26Imprinting, Parent-of-Origin Effects, and Uniparental Disomy10 argomenti
- Genomic Imprinting and Parent-Specific Allelic Expression
- Imprinting Control Regions and Imprinted Domains
- Establishment, Maintenance, and Resetting of Imprints
- Sequence Variants and Epimutations at Imprinted Loci
- Uniparental Disomy and Its Origins
- Heterodisomy, Isodisomy, and Mixed Patterns
- Uniparental Disomy and Recessive Allele Unmasking
- Maternal-Effect Genes and Maternal Genotype Effects
- Distinguishing Imprinting from Cytoplasmic Inheritance
- Integrating Pedigree, Dosage, and Methylation Evidence
27Regulatory Variation and Gene Expression Genetics12 argomenti
- Cis-Regulatory and Trans-Regulatory Variation
- Promoter and Enhancer Alleles
- Tissue-Specific and Developmental Regulatory Effects
- Expression Quantitative Trait Loci
- Splicing Quantitative Trait Loci
- Allele-Specific Expression and Allelic Imbalance
- Allele-Specific Chromatin and Methylation Effects
- Context-Dependent Regulatory Variants
- Local and Distant Regulation of Transcript Abundance
- Regulatory Buffering and Genetic Compensation
- Correlated Expression and Shared Genetic Regulation
- Distinguishing Regulatory Association from Direct Regulation
28Developmental Genetics and Genetic Networks10 argomenti
- Genetic Dissection of Developmental Phenotypes
- Maternal and Zygotic Genetic Contributions
- Patterning Mutants and Positional Identity
- Homeotic Genes and Changes in Developmental Fate
- Heterochronic Mutations and Developmental Timing
- Cell-Autonomous and Non-Cell-Autonomous Genetic Effects
- Mosaic Analysis and Lineage-Restricted Phenotypes
- Genetic Redundancy and Developmental Robustness
- Dosage Sensitivity in Developmental Networks
- Conserved Developmental Genes and Species-Specific Outcomes
Tappa 4
Genomic Technologies
Gli strumenti che leggono il DNA
5 moduli · 60 argomenti
29Genetic Assays and the Evidence They Provide12 argomenti
- Matching Genetic Questions to Measurement Strategies
- Karyotyping and Chromosome-Scale Observations
- Fluorescence In Situ Hybridization and Locus-Level Evidence
- PCR-Based Genotyping and Allele Discrimination
- Fragment-Length Analysis and Repeat Alleles
- Quantitative and Digital Measurements of DNA Copy Number
- SNP Arrays and Genome-Wide Genotyping
- Comparative Genomic Hybridization and Copy-Number Detection
- Methylation Assays and Imprinting Evidence
- RNA Measurements as Evidence of Variant Effects
- Analytical Sensitivity, Specificity, and Detection Limits
- Orthogonal Confirmation and Assay-Dependent Blind Spots
30DNA Sequencing and Genome-Wide Variant Discovery12 argomenti
- Chain-Termination Sequencing and Targeted Sequence Evidence
- Massively Parallel Sequencing Principles
- Short-Read and Long-Read Sequencing Tradeoffs
- Targeted Panels, Exomes, and Whole Genomes
- Read Depth, Breadth of Coverage, and Sampling Variation
- Base Accuracy and Variant-Level Confidence
- Paired Reads and Evidence of Genomic Rearrangements
- Read-Based and Family-Based Haplotype Phasing
- Detection of Small Variants and Structural Variants
- Difficult Regions, Repeats, and Highly Similar Sequences
- Sample Mixtures, Contamination, and Sequencing Artifacts
- Discovery Sensitivity Across Different Variant Classes
31Reference Genomes, Assemblies, and Pangenomes11 argomenti
- Reference Genomes as Coordinate Frameworks
- Reference Sequences and Population Diversity
- Genome Assemblies, Contigs, and Scaffolds
- Assembly Continuity, Completeness, and Accuracy
- Gaps, Collapsed Repeats, and Duplicated Assembly Regions
- Haploid Representations and Phased Diploid Assemblies
- Telomere-to-Telomere Genome Representation
- Alternative Haplotypes and Structurally Variable Loci
- Pangenomes and Multiple-Genome Reference Models
- Reference Bias in Variant Detection and Interpretation
- Comparing Results Across Genome Builds
32Variant Representation, Annotation, and Genomic Resources12 argomenti
- Genomic, Transcript, and Protein Coordinates
- Reference Sequence Identifiers and Versioning
- Standardized Sequence Variant Descriptions
- Strand Orientation and Allele Representation
- Equivalent Representations of Insertions and Deletions
- Multiallelic Sites and Complex Variant Descriptions
- Genotype, Allele Count, and Allele Frequency Records
- Functional Annotations and Their Evidence Sources
- Population Variation Databases and Sampling Context
- Clinical Variant Archives and Conflicting Submissions
- Genome Browsers as Tools for Inspecting Genomic Context
- Resource Provenance, Update Dates, and Interpretation Limits
33Genomic Study Design and Statistical Evidence13 argomenti
- Defining a Genetic Question and Primary Outcome
- Phenotype Definitions and Measurement Reliability
- Cohort, Case-Control, Family, and Trio Designs
- Sampling Frames and Ascertainment Bias
- Sample Size, Statistical Power, and Detectable Effects
- Relatedness and Nonindependent Observations
- Batch Effects and Technical Confounding
- Population Stratification as a Study Design Problem
- Multiple Testing and False Discovery Control
- Effect Estimates, Confidence Intervals, and Uncertainty
- Discovery, Replication, and External Validation
- Winner's Curse and Selective Reporting
- Preregistration and Transparent Analysis Decisions
Tappa 5
Population & Quantitative Genetics
I geni su intere popolazioni
12 moduli · 133 argomenti
34Population Variation and Hardy-Weinberg Equilibrium10 argomenti
- Allele Frequencies and Genotype Frequencies
- Estimating Frequencies from Population Samples
- Heterozygosity and Genetic Diversity
- Hardy-Weinberg Proportions
- Assumptions Behind Hardy-Weinberg Equilibrium
- Multiallelic Loci and Equilibrium Expectations
- Sex-Linked Loci and Frequency Dynamics
- Departures from Equilibrium and Alternative Explanations
- Inbreeding Coefficients and Heterozygote Deficits
- Using Equilibrium Tests Without Overinterpreting Them
35Mutation, Selection, Drift, and Migration12 argomenti
- Mutation as an Input to Allele Frequency Change
- Relative Fitness and Selection Coefficients
- Directional, Purifying, and Balancing Selection
- Dominance and the Response of Alleles to Selection
- Mutation-Selection Balance
- Heterozygote Advantage and Stable Polymorphism
- Frequency-Dependent Selection
- Genetic Drift and Stochastic Allele Trajectories
- Fixation and Loss of Alleles
- Gene Flow and Migration-Selection Balance
- Bottlenecks and Founder Effects
- Interactions Between Evolutionary Forces
36Effective Population Size and Demographic History11 argomenti
- Census Size and Effective Population Size
- Reproductive Variance and Unequal Genetic Contributions
- Sex Ratios and Effective Population Size
- Fluctuating Population Sizes Across Generations
- Inbreeding Effective Size and Variance Effective Size
- Coalescence and Shared Ancestral Lineages
- Site Frequency Spectra and Demographic Signals
- Population Growth, Decline, and Historical Bottlenecks
- Recombination and Variation in Local Genealogies
- Distinguishing Demographic Signals from Selection Signals
- Model Dependence and Uncertainty in Demographic Inference
37Population Structure, Relatedness, and Genetic Ancestry12 argomenti
- Within-Population and Between-Population Variation
- Genetic Differentiation and Fixation Indices
- Identity by State and Identity by Descent
- Kinship, Relatedness, and Shared Genomic Segments
- Runs of Homozygosity and Parental Relatedness
- Isolation by Distance and Geographic Structure
- Admixture and Local Ancestry
- Reference Populations and Ancestry Estimates
- Continuous Variation and the Limits of Discrete Clusters
- Genetic Ancestry, Genealogical Ancestry, and Social Identity
- Sampling Representation and Population Descriptors
- Uncertainty and Appropriate Uses of Ancestry Inference
38Linkage Disequilibrium and Population Haplotypes11 argomenti
- Linkage and Linkage Disequilibrium as Distinct Concepts
- Two-Locus Haplotype Frequencies
- Measures of Linkage Disequilibrium
- Recombination and Decay of Allelic Associations
- Population History and Linkage Disequilibrium Patterns
- Selection, Admixture, and Long-Range Associations
- Haplotype Blocks and Recombination Hotspots
- Tagging Variants and Indirect Association Signals
- Statistical Phasing as an Inference Problem
- Genotype Imputation and Reference Panel Dependence
- Population Differences in Haplotype Structure
39Quantitative Traits and Genetic Variance12 argomenti
- Continuous Traits and Polygenic Inheritance
- Genotypic Values and Average Allelic Effects
- Additive Genetic Variance
- Dominance Variance and Interaction Variance
- Environmental Variance and Residual Variation
- Phenotypic Variance Decomposition and Its Assumptions
- Allele Frequency Dependence of Genetic Variance
- Genetic Covariance Between Traits
- Pleiotropy, Linkage, and Genetic Correlation
- Liability-Threshold Models for Binary Traits
- Rare and Common Alleles in Quantitative Trait Architecture
- Scale Dependence of Genetic Effects
40Heritability and Family-Based Quantitative Designs11 argomenti
- Broad-Sense and Narrow-Sense Heritability
- Parent-Offspring Resemblance
- Sibling and Extended-Family Comparisons
- Twin Studies and Their Assumptions
- Adoption Studies and Environmental Separation
- Shared and Nonshared Environmental Effects
- SNP-Based Heritability and Captured Genetic Variation
- Missing Heritability and Unmeasured Sources of Variation
- Population and Environment Dependence of Heritability
- Why Heritability Does Not Measure Immutability
- Limits of Inferring Between-Group Causes from Within-Group Heritability
41Gene-Environment Interplay9 argomenti
- Gene-Environment Interaction and Effect Modification
- Reaction Norms and Genotype-Specific Responses
- Crossover and Noncrossover Interactions
- Gene-Environment Correlation
- Environmental Exposure Measurement and Misclassification
- Longitudinal Phenotypes and Changing Genetic Effects
- Shared Family Environments and Confounding
- Interaction Tests, Statistical Scale, and Power
- Replication and Interpretation of Interaction Findings
42Quantitative Trait Locus Mapping10 argomenti
- Experimental Populations for QTL Mapping
- F2, Backcross, and Recombinant Inbred Designs
- Segregating Markers and Quantitative Phenotypes
- Single-Marker and Interval Mapping Concepts
- Multiple QTL and Linked Effects
- Detection Thresholds and Mapping Resolution
- Epistatic QTL and Background Dependence
- Near-Isogenic Comparisons and QTL Validation
- From a QTL Interval to Candidate Genes
- Transferability of QTL Findings Across Genetic Backgrounds
43Genome-Wide Association Studies13 argomenti
- Common-Variant Association Study Logic
- Case-Control and Quantitative-Trait GWAS
- Additive, Dominant, and Recessive Association Models
- Genotype Quality and Phenotype Quality Requirements
- Ancestry, Relatedness, and Confounding Control
- Family-Based Association and Transmission Tests
- Rare-Variant Burden and Variance-Component Tests
- Genome-Wide Significance and Multiple Comparisons
- Association Plots and Calibration of Test Statistics
- Independent Signals and Conditional Associations
- Meta-Analysis and Cross-Cohort Heterogeneity
- Cross-Ancestry Studies and Generalizability
- Replication, Effect Inflation, and the Limits of Association
44Fine-Mapping and Causal Gene Prioritization11 argomenti
- From Associated Regions to Candidate Causal Variants
- Linkage Disequilibrium and Uncertain Signal Localization
- Statistical Fine-Mapping and Credible Sets
- Multiple Causal Variants Within a Locus
- Cross-Population Differences as Mapping Information
- Colocalization of Trait and Molecular Associations
- Regulatory Target Genes and Distal Variant Effects
- Coding Variants and Gene-Level Evidence
- Tissue and Cell-Type Relevance in Gene Prioritization
- Integrating Segregation, Association, and Functional Evidence
- Distinguishing Prioritization from Causal Demonstration
45Polygenic Scores and Genetic Prediction11 argomenti
- Polygenic Scores and Weighted Allelic Effects
- Discovery Data and Independent Evaluation Data
- Trait Prediction and Disease Risk Prediction
- Discrimination, Calibration, and Explained Variation
- Relative Risk and Absolute Risk
- Age, Environment, and Baseline Risk in Interpretation
- Population Transferability and Ancestry Representation
- Indirect Genetic Effects and Population-Level Associations
- Combining Genetic and Nongenetic Predictors
- Prediction Uncertainty at the Individual Level
- Statistical Performance and Practical Utility
Tappa 6
Functional & Clinical Genomics
Dal genoma alla funzione e alla clinica
14 moduli · 158 argomenti
46Comparative Genomics and Gene Family Evolution12 argomenti
- Homology, Orthology, and Paralogy
- Conserved Synteny and Genome Rearrangements
- Gene Duplication and Gene Loss
- Whole-Genome Duplication and Duplicate Gene Retention
- Subfunctionalization and Neofunctionalization
- Gene Family Expansion and Contraction
- Pseudogenization and Loss of Functional Constraint
- Comparative Analysis of Coding and Regulatory Regions
- Lineage-Specific Genes and Annotation Artifacts
- Horizontal Gene Transfer in Genome Evolution
- Species Trees, Gene Trees, and Discordant Histories
- Limits of Transferring Functional Annotations Across Species
47Molecular Evolution and Genomic Signatures of Selection12 argomenti
- Neutral and Nearly Neutral Models of Sequence Evolution
- Mutation, Substitution, and Evolutionary Rate
- Synonymous and Nonsynonymous Sequence Change
- Purifying Selection and Sequence Conservation
- Positive Selection and Accelerated Evolution
- Balancing Selection and Maintained Diversity
- Selective Sweeps and Linked Variation
- Background Selection and Reduced Local Diversity
- Molecular Clocks and Rate Heterogeneity
- Incomplete Lineage Sorting and Introgression
- Ancient DNA as Evidence of Genetic Change Through Time
- Demography, Technical Bias, and Alternative Explanations for Selection Signals
48Functional Genomics and Genome-Wide Regulatory Evidence12 argomenti
- Genome-Wide Measurements of Gene Activity
- Transcript Abundance and Differential Expression Evidence
- Chromatin Accessibility and Candidate Regulatory Regions
- Protein-DNA Occupancy and Regulatory Associations
- Methylation Landscapes and Genomic Context
- Chromatin Contact Maps and Regulatory Neighborhoods
- Interpreting Genome-Scale Perturbation Screens
- Reporter Assays and Endogenous Genomic Context
- Variant Effect Maps and Assay Calibration
- Cell-Type Specificity of Functional Evidence
- Orthogonal Assays and Convergent Support for Function
- Biochemical Activity, Biological Function, and Phenotypic Relevance
49Single-Cell and Spatial Genomics11 argomenti
- Bulk Measurements and Cellular Heterogeneity
- Single-Cell DNA Variation and Clonal Structure
- Single-Cell Transcriptomic and Epigenomic Readouts
- Joint Genotype and Cell-State Measurements
- Allelic Dropout and Sparse Observations
- Doublets, Ambient Signals, and Cell Assignment Errors
- Biological Replicates and Cell-Level Pseudoreplication
- Spatial Context and Tissue-Specific Genetic Effects
- Cell Composition as a Source of Apparent Genomic Differences
- Trajectory Inference and Its Relationship to Lineage Evidence
- Linking Cell-Specific Findings to Organism-Level Phenotypes
50Integrative Genomics and Molecular Trait Architecture10 argomenti
- Connecting DNA Variation to Intermediate Molecular Traits
- Transcript, Protein, and Metabolite Quantitative Trait Loci
- Shared and Distinct Genetic Regulation Across Molecular Layers
- Tissue-Matched and Cross-Tissue Genomic Evidence
- Molecular Mediation and Competing Causal Explanations
- Concordant and Discordant Molecular Effects
- Environmental and Temporal Context in Multiomic Studies
- Missing Modalities and Unequal Measurement Sensitivity
- Evidence Integration Without Double Counting
- Designing Follow-Up Studies for Integrated Genomic Hypotheses
51Rare Disease and Mendelian Genomic Analysis12 argomenti
- Phenotype-First and Genotype-First Rare Disease Studies
- Structured Phenotyping and Candidate Disease Models
- Trio, Family, and Unrelated-Case Evidence
- De Novo, Recessive, and Dominant Variant Hypotheses
- Compound Heterozygosity and Phase Determination
- Runs of Homozygosity and Recessive Candidate Regions
- Copy-Number, Repeat, and Mitochondrial Explanations
- Reduced Penetrance and Apparently Unaffected Carriers
- Blended Phenotypes and Multiple Molecular Diagnoses
- Candidate Genes and Gene-Disease Evidence Gaps
- Negative Results, Residual Uncertainty, and Reanalysis
- Diagnostic Yield and the Influence of Ascertainment
52Gene-Disease Validity and Clinical Variant Interpretation13 argomenti
- Gene-Disease Relationships and Modes of Inheritance
- Gene-Disease Validity, Variant Pathogenicity, and Actionability
- Five-Tier Classification: Benign, Likely Benign, Uncertain Significance, Likely Pathogenic, and Pathogenic
- Population Frequency Evidence in Disease Context
- Segregation and De Novo Evidence
- Functional Assay Evidence and Clinical Relevance
- Computational Predictions and Their Evidentiary Limits
- Loss-of-Function Evidence and Disease Mechanism Compatibility
- Dosage Sensitivity and Structural Variant Interpretation
- Avoiding Double Counting of Dependent Evidence
- Variants of Uncertain Significance and Unresolved Evidence
- Conflicting Interpretations, Reclassification, and Evidence Updates
- Distinguishing Variant Classification from an Individual Diagnosis
53Genetic Epidemiology and Causal Inference10 argomenti
- Genetic Susceptibility and Multifactorial Disease Models
- Intermediate Phenotypes and Disease Endpoints
- Mendelian Randomization and Instrumental Variable Logic
- Relevance, Independence, and Exclusion Assumptions
- Horizontal and Vertical Pleiotropy
- Population Structure, Assortative Mating, and Family Effects
- Direction of Causation and Reverse-Causation Questions
- Sample Overlap, Selection Bias, and Weak Instruments
- Shared Genetic Signals and Alternative Causal Explanations
- Triangulation Across Family, Population, and Functional Studies
54Cancer Genomics and Somatic Evolution12 argomenti
- Germline Predisposition and Acquired Somatic Variation
- Oncogenes, Tumor Suppressor Genes, and Allelic Mechanisms
- Two-Hit Models and Loss of Heterozygosity
- Driver, Passenger, and Context-Dependent Mutations
- Somatic Copy-Number Changes and Genome Instability
- Mutational Signatures and Their Interpretation Limits
- Tumor Purity, Ploidy, and Variant Allele Fractions
- Clonal and Subclonal Genetic Architecture
- Branched Evolution and Intratumor Heterogeneity
- Longitudinal Genomic Change Under Selection
- Clonal Hematopoiesis and Nontumor Somatic Variation
- Distinguishing Somatic Evidence from Inherited Risk Evidence
55Immunogenetics and Complex Immune Loci10 argomenti
- Inherited Variation in Immune-System Genes
- HLA Allelic Diversity and Haplotype Structure
- Linkage Disequilibrium Across the MHC Region
- Highly Polymorphic Loci and Genotyping Ambiguity
- Germline Variation and Somatic Receptor Diversification
- Recombination and Mutation as Sources of Receptor Diversity
- Copy-Number Variation in Immune Gene Families
- Genetic Associations with Immune-Mediated Traits
- Balancing Selection and Immune-Locus Evolution
- Separating Inherited Genotypes from Acquired Receptor Repertoires
56Reproductive Genetics and Genomic Screening11 argomenti
- Carrier Status and Recessive Inheritance
- Carrier Screening Scope and Residual Risk
- Couple-Based Interpretation of Inheritance Models
- Prenatal Screening and Diagnostic Testing as Distinct Questions
- Cell-Free DNA Sources and Placental Contributions
- Mosaicism and Discordant Prenatal Findings
- Preimplantation Genetic Testing: Questions and Assay Limits
- Chromosome Findings and Reproductive Outcomes
- Newborn Screening and Genomic Screening Concepts
- Analytical Validity, Clinical Validity, and Clinical Utility
- Consent, Uncertainty, and Communication in Reproductive Testing
57Ecological and Conservation Genetics10 argomenti
- Genetic Diversity and Population Persistence
- Inbreeding Depression and Fitness Consequences
- Genetic Load and the Distribution of Deleterious Alleles
- Local Adaptation and Environmental Heterogeneity
- Neutral and Adaptive Genetic Variation
- Population Connectivity and Fragmentation
- Hybridization, Introgression, and Species Boundaries
- Genetic Rescue and Context-Dependent Outcomes
- Distinguishing Population Size from Genetic Viability
- Genomic Sampling and Conservation Decision Uncertainty
58Ethics, Society, and Genomic Data Governance12 argomenti
- Informed Consent for Genetic and Genomic Research
- Broad Consent, Reuse, and Future Research Questions
- Identifiability and Privacy of Genomic Data
- Familial Implications of Individual Genetic Findings
- Consent and Assent in Research Involving Children
- Secondary Findings and Return-of-Results Policies
- Participant Preferences and the Right Not to Know
- Community Engagement and Data Sovereignty
- Representation, Equity, and Research Benefit Sharing
- Genetic Discrimination and Social Misuse of Genetic Claims
- Responsible Communication of Ancestry and Group Differences
- Controlled Access, Data Stewardship, and Accountability
59Reproducibility, Reporting, and Scientific Communication11 argomenti
- Recording Samples, Phenotypes, and Genetic Assumptions
- Tracking Genome Builds, Transcript Versions, and Annotation Sources
- Documenting Inclusion, Exclusion, and Quality Decisions
- Separating Exploratory and Confirmatory Findings
- Reporting Effect Sizes and Uncertainty
- Communicating Negative Results and Detection Limits
- Evaluating Database Assertions and Primary Evidence
- Reproducing Published Genetic Claims from Available Evidence
- Updating Interpretations as Evidence Changes
- Writing Clear Genetic and Genomic Research Reports
- Communicating Probabilistic Findings to Nonspecialist Audiences
Tappa 7
Practicum & Research Project
Esercizi, poi la progettazione di uno studio
4 moduli · 42 argomenti
60Classical Genetics Problem-Solving Practicum10 argomenti
- Inferring Genotypes from Segregation Data
- Comparing Mendelian and Modified Inheritance Models
- Solving Multigenerational Pedigree Problems
- Estimating Conditional Carrier Probabilities
- Building a Three-Point Genetic Map
- Interpreting Tetrad and Gene Conversion Data
- Analyzing Complementation and Suppressor Results
- Inferring Pathway Relationships from Double Mutants
- Distinguishing Maternal Effects, Imprinting, and Organelle Inheritance
- Explaining Mosaic and Variable-Penetrance Pedigrees
61Population and Quantitative Genetics Practicum10 argomenti
- Estimating Allele Frequencies and Sampling Uncertainty
- Evaluating Hardy-Weinberg Departures
- Comparing Drift, Selection, and Migration Scenarios
- Interpreting Founder Effects and Population Bottlenecks
- Analyzing Relatedness and Runs of Homozygosity
- Reading Linkage Disequilibrium and Haplotype Summaries
- Interpreting Heritability Estimates Across Study Designs
- Evaluating QTL and Association Study Results
- Assessing Confounding and Replication in GWAS
- Comparing Polygenic Score Calibration Across Populations
62Genomic Evidence Interpretation Practicum11 argomenti
- Choosing Assays for Different Genetic Hypotheses
- Interpreting Coverage Gaps and Difficult Genomic Regions
- Comparing Variant Consequences Across Transcript Models
- Evaluating Structural Variant and Repeat Expansion Evidence
- Interpreting Trio Findings and Compound Heterozygous Alleles
- Comparing Gene-Disease Validity and Variant-Level Evidence
- Assessing Functional Evidence for a Regulatory Variant
- Interpreting Single-Cell Genotypes and Clonal Relationships
- Explaining Tumor Variant Fractions Under Different Purity and Ploidy Models
- Critiquing an Integrated Genomic Causality Claim
- Preparing an Evidence Summary with Explicit Uncertainty
63Integrated Genetics and Genomics Research Project11 argomenti
- Formulating a Testable Genetic Research Question
- Defining the Organism, Population, and Phenotype
- Selecting an Inheritance or Genetic Architecture Model
- Choosing Suitable Data and Measurement Strategies
- Planning Sampling, Comparisons, and Statistical Power
- Identifying Confounders and Competing Explanations
- Integrating Transmission, Population, and Functional Evidence
- Evaluating Data Quality and Unresolved Genomic Regions
- Designing Independent Validation and Follow-Up Studies
- Addressing Consent, Representation, and Data Stewardship
- Presenting Conclusions, Limitations, and Reproducible Evidence
Quindici minuti.Ogni giorno.
- 1
Una lezione entra nella pausa pranzo
Un'idea alla volta, in slide brevi. Una lezione intera dura circa quindici minuti.
- 2
Esercizi con correzione immediata
Le domande sono dentro la lezione. Rispondi e vedi subito se hai capito.
- 3
Una serie che ti fa tornare
Una lezione al giorno tiene viva la serie. Sessioni brevi e costanti ti portano fino in fondo.
- 1
Una lezione entra nella pausa pranzo
Un'idea alla volta, in slide brevi. Una lezione intera dura circa quindici minuti.
- 2
Esercizi con correzione immediata
Le domande sono dentro la lezione. Rispondi e vedi subito se hai capito.
- 3
Una serie che ti fa tornare
Una lezione al giorno tiene viva la serie. Sessioni brevi e costanti ti portano fino in fondo.
Per chi lavora con il DNA.
Laureati in biologia che entrano nella genomica
Dove crescerai di più
Valuta copertura e qualità delle varianti chiamate
Tappa 4 · Genomic TechnologiesFuturi consulenti genetici
Dove crescerai di più
Classifica le varianti sulla scala a cinque livelli
Tappa 6 · Functional & Clinical GenomicsBioinformatici che vogliono la biologia
Dove porta questo corso.
Il lavoro attorno a cui è costruito questo corso, e come ci si entra.
Bioinformatics Analyst
Analizza dati di sequenziamento di DNA e RNA per trovare ciò che conta in un genoma.
Tutte le carriere del futuroSul lavoro
- Eseguire da capo a fondo una pipeline di analisi del sequenziamento
- Trovare e annotare le varianti che possono causare malattie
- Spiegare i risultati genomici a biologi e clinici
Come ci si entra
Di solito una laurea in biologia, bioinformatica o informatica, con competenze di programmazione.
Sii il primo della lista.
Accesso anticipato per i singoli, pilota per i team. Dicci chi sta imparando.
enterprise@astratrainer.com