WorksheetsGenetics and Sequencing Flashcards
Total questions: 100
Worksheet time: 2hrs 50mins
What is NGS (next generation sequencing)?
Family of parallel chemistry techs that read billions of DNA molecules in parallel. Core idea: in a covalent genome, targeted subsets that are barcoded (fragment libraries have each nucleotide addition cycle across all molecules).
A method for amplifying a single DNA molecule to produce millions of copies using PCR.
A technique for separating proteins based on their size and charge.
A process for editing genes using CRISPR-Cas9 technology.
What is the function of NGS words (steps)?
1. Library preparation (with barcodes specific to adapters), 2. Sequencing the fragments, 3. Imaging and sequencing to detect nucleotides, 4. Base calling.
1. DNA extraction, 2. PCR amplification, 3. Gel electrophoresis, 4. Sanger sequencing.
1. Protein isolation, 2. Western blotting, 3. Antibody staining, 4. Imaging.
1. Cell lysis, 2. RNA extraction, 3. cDNA synthesis, 4. Microarray analysis.
What is the difference between Illumina short and long reads?
Short read: strength with high number of reads per experiment. Long read: strength with high number of bases per read.
Short read: strength with high number of bases per read. Long read: strength with high number of reads per experiment.
Short read: used for protein sequencing. Long read: used for carbohydrate sequencing.
Short read: produces longer sequences. Long read: produces shorter sequences.
What is a locus?
A fixed position on a chromosome, like the position of a gene or a marker.
A type of cell found in the liver.
A process of DNA replication.
A chemical that signals cell division.
What is a haplotype?
What is the function of DNA polymerase?
Enzyme by which cells replicate themselves, producing two identical copies.
Transports amino acids to ribosomes during protein synthesis.
Breaks down glucose to release energy.
Synthesizes ribosomal RNA in the nucleolus.
What is the function of prophase in mitosis?
Chromatin into chromosomes (attach to spindle fibers by centromeres).
Chromosomes line up at the cell equator.
Sister chromatids are pulled apart to opposite poles.
The cell divides into two identical daughter cells.
What is the difference between classic Sanger sequencing and classic dideoxy sequencing?
Classic Sanger: Incorporate labeled primers, electrophoresis, PCR verification, sequencing a mixture of fragments, labeled base calling long or short. Classic dideoxy: Incorporate dideoxy method, combine DNA & digest with restriction enzymes and a subset of fragments is eluted and spotted onto a microarray slide. DNA from each sample is then used to create a fluorescent signal.
Classic Sanger: Uses only dideoxy nucleotides, no electrophoresis, and does not require labeled primers. Classic dideoxy: Uses only labeled primers and does not involve restriction enzymes.
Classic Sanger: Involves microarray slides and fluorescent signals for detection. Classic dideoxy: Uses PCR verification and does not require labeled base calling.
Classic Sanger: Uses restriction enzymes and microarray slides. Classic dideoxy: Involves only electrophoresis and PCR verification.
What is a contig?
A set of overlapping DNA segments that together represent a consensus region of DNA.
A type of protein found in cell membranes.
A chemical used to stain chromosomes.
A process of breaking down RNA molecules.
What is a scaffold in genome assembly?
What is the definition of metaphase?
Chromosomes line up.
The cell divides into two.
DNA is replicated.
The nuclear membrane reforms.
What happens during anaphase?
Sister chromatids pulled off opposite poles.
Chromosomes line up at the cell equator.
Nuclear envelope reforms around chromosomes.
DNA replicates in the nucleus.
What occurs during telophase?
Nuclear envelope reforms and chromosomes unfold and are in two new cells.
Chromosomes line up in the middle of the cell.
Spindle fibers attach to centromeres and pull chromatids apart.
DNA replicates and the cell grows.
What is mitosis?
List the three stages of meiosis and briefly describe each.
What is a codon?
A 3 base sequence in mRNA that codes for an amino acid (AUG common start codon).
A type of protein found in the cell membrane.
A segment of DNA that codes for a carbohydrate.
A molecule that transports oxygen in the blood.
What is an exon?
Part of a gene that stays in the final mRNA (meaning it gets translated).
A type of enzyme that breaks down DNA.
A region of DNA that is always removed during RNA processing.
A molecule that carries amino acids to the ribosome.
What is an intron?
Non-coding regions spliced out of mRNA.
Coding regions translated into protein.
A type of enzyme involved in DNA replication.
A molecule that carries amino acids to the ribosome.
What is a population in genetics?
A group of interbreeding individuals that share a common set of genes.
A collection of different species living in the same area.
A group of organisms that do not reproduce.
A set of genes found only in plants.
What is genetic drift?
Random changes in allele frequencies (especially in small populations). Can lead to alleles loss or fixation, increases population differentiation.
A process where organisms acquire traits from their environment and pass them to offspring.
The movement of genes between populations through migration.
A type of natural selection that favors the average phenotype in a population.
What is the difference between mutation and recombination?
What is LD (linkage disequilibrium)?
Non-random association of alleles at different loci.
Loss of genetic material during replication.
Random mutation of DNA sequences.
Equal distribution of alleles in a population.
What is the definition of a codon?
A 3 base sequence in mRNA that codes for an amino acid.
A single base in DNA that codes for a protein.
A 5 base sequence in tRNA that codes for a carbohydrate.
A 2 base sequence in mRNA that codes for a lipid.
What is the difference between an exon and an intron?
Exon: part of a gene that stays in the final mRNA (gets translated). Intron: non-coding region spliced out of mRNA.
Exon: non-coding region spliced out of mRNA. Intron: part of a gene that stays in the final mRNA (gets translated).
Exon: a type of enzyme. Intron: a type of protein.
Exon: found only in prokaryotes. Intron: found only in eukaryotes.
What is the main force that affects the size of a population?
Genetic drift.
Mutation.
Migration.
Natural selection.
What is the effect of migration on populations?
Migration (gene flow) homogenizes populations, reduces FST (differentiation), introduces new alleles, breaks up local adaptation.
Migration increases genetic drift and leads to complete isolation of populations.
Migration causes populations to become more genetically distinct and increases FST.
Migration eliminates all genetic variation within populations.
What is the effect of selection on populations?
What is the effect of drift on populations?
What is the effect of recombination on populations?
What is the effect of mutation on populations?
What does SNP stand for?
Single Nucleotide Polymorphism
Simple Nucleotide Pairing
Single Nitrogenous Protein
Sequence Nucleotide Pattern
What is the interpretation of r^2 in genetics?
Which of the following is NOT a cause of Linkage Disequilibrium (LD)?
A) Physical linkage on a chromosome
B) Random mating
C) Genetic drift
D) Population admixture
What is the Hardy-Weinberg Equilibrium (HWE) formula?
p2+2pq+q2=1
p2−2pq+q2=1
p2+pq+q2=1
p2+2pq−q2=1
What does Fst measure in population genetics?
Genetic differentiation between subpopulations
Mutation rate within a population
Average lifespan of individuals
Rate of gene flow between species
What is gene flow?
What does the inbreeding coefficient (F) measure?
The probability that two alleles at a locus are identical by descent.
The number of alleles present in a population.
The rate of mutation at a specific gene locus.
The frequency of dominant alleles in a population.
What is the method for testing for Hardy-Weinberg Equilibrium (HWE)?
Compare observed and expected genotype counts.
Measure allele frequencies over time.
Sequence the entire genome of individuals.
Use PCR to amplify DNA segments.
What does Tajima's D test for?
Deviation from the neutral frequency spectrum in nucleotide sequences.
The rate of protein synthesis in cells.
The presence of specific amino acids in proteins.
The length of introns in eukaryotic genes.
What does Q-statistics (Qst) measure?
Genetic variance among populations for quantitative traits.
The mutation rate in a population.
The average lifespan of individuals in a population.
The frequency of dominant alleles in a gene pool.
What does Fst measure in a population?
Genetic differentiation among individuals relative to the total population.
The mutation rate within a single gene.
The average lifespan of individuals in a population.
The rate of migration between different species.
What is the basis for Fst or 1-Fst?
Fst is based on allele frequencies. 0=0, 1=1 based on molecular distances (shows just presence or absence).
Fst is based on chromosome number. 0=0, 1=1 based on gene expression levels.
Fst is based on protein structure. 0=0, 1=1 based on amino acid sequences.
Fst is based on cell morphology. 0=0, 1=1 based on physical appearance.
What does Bayesian (used in structure) estimate?
Estimates posterior probability of parameters by combining likelihood from the data and prior information.
Estimates only the mean of the observed data.
Estimates the mode of the prior distribution only.
Estimates the variance of the likelihood function only.
What is the difference between what we believe now and what we believed before in Bayesian (in learning)?
What does Maximum Likelihood (ML) maximize?
The probability of the observed data, given the model.
The prior probability of the model.
The variance of the data.
The number of parameters in the model.
What does Bayesian vs ML give?
ML gives a single value; Bayesian gives a distribution.
ML gives a distribution; Bayesian gives a single value.
Both give only single values.
Both give only distributions.
What does Kinship measure (look at individuals)?
What does IBS stand for and what does it mean?
Identity by state; two individuals have the same allele, regardless of where it came from.
Identical base sequence; two DNA sequences are exactly the same.
Inherited by selection; a trait passed down due to selective breeding.
Immuno-biological status; the immune condition of an individual.
What is Nei's genetic distance?
Distance between populations, useful to link families as groups.
A measure of mutation rate in a single gene.
A method to calculate allele frequency in an individual.
A technique for sequencing mitochondrial DNA.
What is the application of Fst to the sub-sample?
What is the application of PCA/Admixture?
What is LD decay?
LD decay may be less accurate because sparse markers and LD may vary by region.
LD decay refers to the increase in genetic diversity over time.
LD decay is the process of increasing linkage disequilibrium between loci.
LD decay is the method of amplifying DNA sequences in a laboratory.
What does data that validates center of origin show?
Find local haplotypes; diversity is highest where populations are usually the center of origin.
It shows that all populations have equal diversity.
It indicates that genetic diversity is lowest at the center of origin.
It proves that haplotypes are randomly distributed across all regions.
What are two ways to identify selective sweeps?
Selective sweeps are identified by reduced neutral diversity and rapid increase in frequency due to positive selection.
Selective sweeps are identified by increased mutation rates and stable allele frequencies.
Selective sweeps are identified by high genetic diversity and slow changes in allele frequency.
Selective sweeps are identified by random genetic drift and decreased recombination rates.
Why is good pedigree data valuable?
It allows calculation of 'allele frequency' at subsequent times as the 'frequency of the contribution of a specific ancestor to the modern gene pool'.
It helps in determining the exact age of an individual.
It is used to predict weather patterns.
It is necessary for identifying plant species.
What do plant breeders recommend and select for?
What are selection indices?
What is the main goal of a selection index?
Maximize genetic gain by combining multiple traits and correlations to maximize genetic gain.
Minimize the number of traits considered in breeding programs.
Select individuals based solely on physical appearance.
Reduce the genetic diversity within a population.
What is a desired gain index?
What is a restricted selection index?
Maximize gain in some traits while holding other constant.
Select only one trait for improvement.
Restrict the number of individuals selected.
Limit selection to a specific environment.
What is tandem selection?
What is independent culling levels?
What is GxE in terms of genotypes?
GxE refers to genotype by environment interaction.
GxE refers to gene expression only.
GxE refers to genetic exchange.
GxE refers to general environmental factors.
What are AMMI details?
Statistical model that analyzes different performance across multiple environments and captures GxE interaction.
A type of soil nutrient analysis method used in agriculture.
A genetic engineering technique for improving crop yield.
A weather forecasting model for predicting rainfall patterns.
What is the AMMI validation info?
What is mean in basic/family terms?
What does AMMI genotype x 'what that shows'?
What is GxE input?
Field book genotype and environment values (raw log).
A type of fertilizer used in agriculture.
A software for weather prediction.
A method for DNA sequencing.
What is my data structure and AMMI or GxE input?
Can't use raw; need multiple environments. Should only use environments if types of data and variance in weather are available for each year.
Raw data from a single environment is sufficient for AMMI analysis.
AMMI and GxE analysis require only genotype data, not environment data.
You can use any data structure as long as it includes plant height measurements.
What is Finlay Wilkinson Regression?
What does the Finlay Wilkinson regression model measure?
Genotype performance across environments by regressing values on the environmental mean.
The rate of mutation in a single genotype over time.
The correlation between genotype and phenotype within a single environment.
The effect of fertilizer on crop yield regardless of genotype.
What does HERITABILITY refer to in genetics?
How much variation in a trait is due to genetic differences and how predictable the trait is.
The process by which traits are acquired during an organism's lifetime.
The ability of an organism to adapt to environmental changes.
The total number of genes present in a population.
What is the formula for H2 (broad sense heritability)?
H2 = Vg / Vp
H2 = Vp / Vg
H2 = Ve / Vp
H2 = Vg / Ve
What does GCA stand for in breeding terminology?
General combining ability
Genetic cross analysis
Growth control agent
Gene cluster arrangement
What does SCA stand for in breeding terminology?
Specific combining ability
Single cross analysis
Seed coat analysis
Standard crop assessment
What is the meaning of high or low h2 in genetics?
High h2 = due to additive genetic selection will work; Low h2 = due to non-additive genetic influences so selecting parents won’t reliably pass on traits.
High h2 = due to environmental factors only; Low h2 = due to strong genetic inheritance.
High h2 = traits are not heritable; Low h2 = traits are always passed on.
High h2 = due to mutation rates; Low h2 = due to stable genes.
What is the formula for narrow sense heritability (h2)?
h2 = Va / Vp
h2 = Vd / Vp
h2 = Ve / Vp
h2 = Vp / Va
What does the breeder’s equation show?
Response to selection depends on the heritability of a trait and the selection differential.
It predicts the mutation rate in a population.
It measures the genetic drift in small populations.
It calculates the rate of gene flow between populations.
What is the formula for the breeder’s equation or genetic gain per year?
ΔG = (Selection intensity × h2 × σp) / L
ΔG = (Selection intensity × h2 × σg) / L
ΔG = (Selection intensity × h × σp) / L
ΔG = (Selection intensity × h2 × σp) × L
What does the abbreviation 'RIL' stand for in genetics?
Recombinant Inbred Line
Random Insertion Locus
Repetitive Intergenic Linker
Regulatory Intron Loop
What is the main advantage of using a Doubled Haploid (DH) population in genetic studies?
Great for stable trait mapping
Increases genetic diversity in a population
Reduces the need for any genetic analysis
Ensures all offspring are genetically identical
What does the abbreviation 'BIL' stand for in genetics?
Backcross Inbred Line
Bacterial Insertion Locus
Base Inheritance Level
Binary Integration Link
What is the main use of a 'MAGIC' population in genetics?
Mapping population with more recurrent genome
Increasing mutation rates in a population
Producing genetically identical individuals
Preserving endangered species
What does 'ELITE' refer to in the context of genetic populations?
Best line/parent selected
A random group of individuals
The oldest generation
A genetically modified organism
What is the purpose of 'BLUP' in genetics?
Best linear unbiased prediction; used to estimate breeding values and genotype data
Basic linkage unit protocol; used for DNA sequencing
Binary linear unit process; used for gene editing
Biological linkage update program; used for protein synthesis
What does 'GBLUP' stand for and what is its function?
Genomic best linear unbiased prediction; uses all SNP markers to estimate genomic breeding values by shrinking marker effects to avoid overfitting.
Genetic baseline linear unbiased prediction; uses only significant SNP markers for trait selection.
Generalized breeding linear unbiased prediction; estimates phenotypic values without using SNP markers.
Genomic best likelihood unbiased prediction; uses SNP markers but does not shrink marker effects.
What is a 'ridge regression' used for in genetics?
Applies a penalty to large marker effects
Removes all genetic markers from analysis
Predicts only dominant traits
Increases the variance of marker effects
What does 'MAF' stand for in genetic studies?
Minor allele frequency
Maximum allele frequency
Major allele factor
Molecular analysis factor
What does 'PIC' stand for in genetics?
Polymorphism information content
Protein interaction complex
Primary inheritance code
Polymerase initiation complex
What is a 'monomorphic SNP'?
A SNP with the same genotype in all samples (e.g., all samples as AA)
A SNP with multiple genotypes in all samples
A SNP that causes a change in protein function
A SNP that is only found in one individual
What is an 'allele dosage'?
The number of copies of a specific allele in an individual at a given locus
The process of measuring gene expression levels in a cell
The total number of genes present on a chromosome
The frequency of an allele in a population
What is 'crispR' used for in genetics?
Customarily regularly interspaced short palindromic repeats; used for genome editing
A method for protein synthesis in mitochondria
A technique for increasing cell membrane permeability
A process for DNA replication in prokaryotes
What is the function of 'crispR derived nuclease'?
Turns the endonuclease (nuc) with RNA and an enzyme that cuts DNA at a specific sequence allowing for precise editing
Binds to mRNA to prevent translation of proteins
Acts as a signaling molecule in cell communication
Synthesizes new strands of RNA from a DNA template
What is 'mutation breeding'?
Inducing mutations in DNA of radiation or mutagenic chemicals to create novel traits
Crossing two different species to produce hybrids
Selecting plants with desirable traits over generations
Grafting two plants together to combine characteristics
What is 'coarse mapping' in genetics?
Locating a broad region of the genome linked to a QTL
Identifying the exact nucleotide sequence of a gene
Mapping the entire genome at single-base resolution
Determining the function of a specific protein
What is 'fine mapping' in genetics?
Narrowing down mapping regions to fewer genes or candidates
Identifying the entire genome sequence of an organism
Studying the physical appearance of an organism
Measuring gene expression levels in different tissues
What is 'imputation' in genetics?
Filling in missing genotype data or predicting untyped SNPs using known SNPs and patterns of LD
The process of amplifying DNA using PCR
The removal of introns from pre-mRNA
The sequencing of the entire genome
What does 'QTL' stand for and what is its function?
Quantitative Trait Locus; region of the genome that is statistically associated with variation in a quantitative trait
Quantitative Transcription Level; a gene that controls all traits in an organism
Quality Trait Linkage; a process of linking genes to traits qualitatively
Quantum Trait Locus; a region of the genome responsible for binary traits
What is 'LOD score' in genetics?
Logarithm of odds; a measure of how likely it is that a marker is linked to a trait
Level of DNA; a measure of DNA concentration in a sample
Loss of dominance; a measure of gene suppression
Length of DNA; a measure of chromosome size
What is 'reference-based alignment' in genomics?
Reads are aligned to a reference genome, and variants like SNPs are called by comparing reads to that reference.
Reads are aligned to each other without using any reference genome.
Reference-based alignment refers to aligning protein sequences only.
It is a method where only the reference genome is sequenced, not the reads.
