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ZIP herunterladen Herunterladen... name genetics description Study of heredity, genes, genetic variation, and inheritance patterns category biology keywords ["genetics","inheritance","Mendelian genetics","gene mapping","mutation","genetic disorders","genomics"]
Genetics
What I Do
Genetics studies heredity, genetic variation, and the function and behavior of genes. I cover Mendelian inheritance, genetic linkage, gene mapping, mutation analysis, population genetics, quantitative genetics, and genetic disorders. I help analyze inheritance patterns, calculate genetic risks, and understand gene function.
When to Use Me
Analyzing Mendelian inheritance patterns
Calculating genetic disease risk and carrier probability
Performing linkage analysis and gene mapping
Understanding population genetics and allele frequencies
Studying mutation types and effects
Interpreting genetic test results
Designing breeding strategies and genetic crosses
Core Concepts
Mendelian Inheritance : Dominant, recessive, codominant patterns
Genetic Linkage : Recombination frequency, linkage disequilibrium
Gene Mapping : LOD scores, genetic distance, map units (cM)
Mutation Types : Point mutations, insertions, deletions, chromosomal aberrations
Population Genetics : Hardy-Weinberg equilibrium, allele frequencies
Quantitative Genetics : Heritability, breeding values, genetic variance
Genetic Disorders : Inheritance patterns of monogenic diseases
Gene Expression : Genotype-phenotype relationships
Epistasis : Gene-gene interactions and phenotypic effects
Genetic Testing : PCR, sequencing, array CGH interpretation
Code Examples
import numpy as np
from typing import List , Dict , Tuple
from itertools import combinations
class MendelianGenetics :
def __init__ (self, gene_name: str ):
self .gene_name = gene_name
def predict_offspring (self, parent1_genotype: str ,
parent2_genotype: str ) -> Dict :
alleles1 = list (parent1_genotype)
alleles2 = list (parent2_genotype)
offspring = {}
for a1 in alleles1:
for a2 in alleles2:
genotype = '' .join(sorted ([a1, a2]))
offspring[genotype] = offspring.get(genotype, 0 ) + 1
total = sum (offspring.values())
return {k: v/total for k, v in offspring.items()}
def calculate_carrier_probability (self, affected_frequency: float ,
carrier_frequency: float ) -> float :
return 2 * np.sqrt(affected_frequency)
def calculate_recurrence_risk ( ) -> :
(affected_status):
(affected_status):
( ) -> :
prob_exclusion =
prob_inclusion =
child child_alleles:
child alleged_father_alleles:
prob_inclusion +=
child random_man_alleles:
prob_exclusion +=
prob_inclusion / prob_exclusion prob_exclusion > ( )
:
( ):
.population = population
( ) -> :
p = allele_frequency_a
q = - p
{
: p** ,
: *p*q,
: q**
}
( ) -> :
Hs = np.mean(heterozygosity_loci)
(heterozygosity_total - Hs) / heterozygosity_total
( ) -> :
( * ne_census - ) / ( + variance)
( ) -> [ ]:
p = p0
frequencies = [p]
_ (generations):
p = p / ( - selection_coefficient * ( - p))
frequencies.append(p)
frequencies
( ) -> :
coefficients = {
: / ,
: / ,
: / ,
: /
}
coefficients.get(consanguinity, )
:
( ):
.chromosome = chromosome
( ) -> :
recombinations =
total = (markers) -
i (total):
genotypes_parent1[i] != genotypes_parent1[i+ ]:
recombinations +=
genotypes_parent2[i] != genotypes_parent2[i+ ]:
recombinations +=
recombinations / ( * total)
( ) -> :
likelihood_observed = ( - theta) ** ( - recombination_fraction) * \
theta ** recombination_fraction
likelihood_null =
np.log10(likelihood_observed / likelihood_null)
( ) -> :
-np.log10( - * recombination_fraction) /
:
( ):
.test_type = test_type
( ) -> :
sensitivity = true_positives / (true_positives + false_negatives)
specificity = true_negatives / (true_negatives + false_positives)
ppv = true_positives / (true_positives + false_positives)
npv = true_negatives / (true_negatives + false_negatives)
{
: sensitivity,
: specificity,
: ppv,
: npv
}
( ) -> :
evidence = likelihood_given_disease * prior + \
likelihood_given_no_disease * ( - prior)
(likelihood_given_disease * prior) / evidence
cross = MendelianGenetics( )
offspring = cross.predict_offspring( , )
( )
hw = PopulationGenetics( )
frequencies = hw.hardy_weinberg( )
( )
Best Practices
Confirm pedigree information and inheritance patterns before analysis
Use appropriate statistical methods for linkage analysis
Consider genetic heterogeneity in disease gene studies
Account for reduced penetrance in risk calculations
Validate genetic test results with orthogonal methods
Consider population allele frequencies in risk assessment
Use appropriate reference databases for variant interpretation
Account for consanguinity in rare disease diagnosis
Apply proper multiple testing corrections in GWAS
Maintain confidentiality in genetic information handling
self, parent_genotypes: List [str ],
affected_status: List [bool ]
float
if
all
return
0.25
elif
any
return
0.0
return
0.0
def
paternity_index
self, child_alleles: List [str ],
alleged_father_alleles: List [str ],
random_man_alleles: List [str ]
float
0.0
0.0
for
in
if
in
0.5
if
in
0.5
return
if
0
else
float
'inf'
class
PopulationGenetics
def
__init__
self, population: str
self
def
hardy_weinberg
self, allele_frequency_a: float
Dict
1
return
'AA_frequency'
2
'Aa_frequency'
2
'aa_frequency'
2
def
calculate_f_st
self, heterozygosity_loci: List [float ],
heterozygosity_total: float
float
return
def
effective_population_size
self, ne_census: int ,
variance: float
float
return
4
2
2
def
allele_frequency_change
self, p0: float ,
selection_coefficient: float ,
generations: int
List
float
for
in
range
1
1
return
def
inbreeding_coefficient
self, consanguinity: str
float
'first_cousins'
1
16
'second_cousins'
1
64
'uncle_niece'
1
4
'self'
1
4
return
0.0
class
LinkageAnalysis
def
__init__
self, chromosome: int
self
def
calculate_recombination_fraction
self, markers: List [str ],
genotypes_parent1: List [str ],
genotypes_parent2: List [str ]
float
0
len
1
for
in
range
if
1
1
if
1
1
return
2
def
lod_score
self, recombination_fraction: float ,
theta: float = 0.5
float
1
1
0.25
return
def
predict_morgans
self, recombination_fraction: float
float
return
1
2
100
class
GeneticTesting
def
__init__
self, test_type: str
self
def
sensitivity_specificity
self, true_positives: int ,
false_positives: int ,
false_negatives: int ,
true_negatives: int
Dict
return
'sensitivity'
'specificity'
'positive_predictive_value'
'negative_predictive_value'
def
bayes_posterior
self, prior: float , likelihood_given_disease: float ,
likelihood_given_no_disease: float
float
1
return
"GeneA"
"Aa"
"Aa"
print
f"Offspring ratios: {offspring} "
"European"
0.01
print
f"AA: {frequencies['AA_frequency' ]:.4 f} , Aa: {frequencies['Aa_frequency' ]:.4 f} "
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