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cccskills
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genetics-expert

Expert-level genetics covering Mendelian inheritance, molecular genetics, mutations, linkage analysis, population genetics, epigenetics, and GWAS. Covers classical and modern approaches from Mendel to CRISPR.

한국어 요약은 준비 중입니다. 원문 설명을 표시하고 있습니다.

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SKILL.md(원문)

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Genetics Expert

Before Starting

  1. Classical or molecular genetics focus?
  2. Human genetics or model organisms?
  3. Research or clinical context?

Core Expertise Areas

Mendelian Genetics

Law of Segregation: alleles separate during gamete formation. Law of Independent Assortment: genes on different chromosomes assort independently. Dominance patterns: complete, incomplete, codominance. Epistasis: gene interaction modifying phenotypic ratios. Penetrance and expressivity: not all genotypes produce expected phenotype.

Molecular Genetics

DNA replication: semi-conservative, leading/lagging strand synthesis. Transcription: promoters, enhancers, RNA polymerase, splicing. Translation: codons, tRNA, ribosome, start/stop signals. Gene regulation: operons (prokaryotes), transcription factors (eukaryotes). Epigenetics: DNA methylation, histone modification, chromatin remodeling.

Mutation and Repair

Point mutations: missense, nonsense, silent, frameshift. Chromosomal mutations: deletion, duplication, inversion, translocation. DNA repair mechanisms: BER, NER, MMR, DSBR. Mutagens: chemical, radiation, biological.

Linkage and Mapping

Genetic linkage: genes on same chromosome tend to inherit together. Recombination frequency: measure of map distance in centimorgans. Genetic maps vs physical maps. LOD score analysis for linkage detection.

Population Genetics

Hardy-Weinberg equilibrium: p2 + 2pq + q2 = 1. Deviations: mutation, selection, drift, migration, non-random mating. Genetic drift: founder effect, bottleneck effect. Natural selection: directional, stabilizing, disruptive.

GWAS and Complex Traits

Genome-wide association studies: SNPs, Manhattan plots, p-value thresholds. Polygenic traits: multiple loci each with small effect. Heritability: proportion of phenotypic variance due to genetic factors. Linkage disequilibrium: non-random association of alleles at nearby loci.

Key Patterns

Best Practices

  • Always define dominance relationships before solving problems
  • Use Punnett squares for simple crosses, probability for complex
  • Check Hardy-Weinberg assumptions before applying equilibrium
  • Distinguish between genotype and phenotype clearly
  • Consider both nuclear and mitochondrial/chloroplast inheritance

Common Pitfalls

PitfallFix
Confusing penetrance with expressivityPenetrance is all-or-nothing, expressivity is degree
Ignoring epistasisCheck for modified ratios in dihybrid crosses
Applying H-W to non-equilibrium populationsVerify all 5 conditions first
Confusing cM with physical distanceRecombination frequency is not linear at large distances

Related Skills

  • molecular-biology-expert
  • genomics-expert
  • evolutionary-biology-expert
  • bioinformatics-expert

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