Podcast
Questions and Answers
Which of the following is NOT a type of DNA sequence variation?
Which of the following is NOT a type of DNA sequence variation?
- Insertion
- Substitution
- Alternative splicing (correct)
- Deletion
Which type of mutation has the greatest effect on protein function?
Which type of mutation has the greatest effect on protein function?
- Transition
- Nonsense (correct)
- Transversion
- Missense
What is the current human genome build?
What is the current human genome build?
- GRCh38 (correct)
- GRCh39
- GRCh37
- GRCh36
What is the main difference between single base pair level variations and structural variants?
What is the main difference between single base pair level variations and structural variants?
Which factor contributes to the variation in the human genome?
Which factor contributes to the variation in the human genome?
What is a haplotype?
What is a haplotype?
What is the suggested nomenclature for mostly SNP and short indels?
What is the suggested nomenclature for mostly SNP and short indels?
Which continent generally has a higher number of variants in the human genome?
Which continent generally has a higher number of variants in the human genome?
Which type of indel in exons typically results in a frameshift and premature stop codon?
Which type of indel in exons typically results in a frameshift and premature stop codon?
What is the effect of a 3 bp inframe indel in exons?
What is the effect of a 3 bp inframe indel in exons?
Where are the effects of indels within introns most likely to occur?
Where are the effects of indels within introns most likely to occur?
What is the main effect of small indels in transcription factor binding sites?
What is the main effect of small indels in transcription factor binding sites?
Which of the following is a cause of improper base pairing or insertion/deletions in DNA?
Which of the following is a cause of improper base pairing or insertion/deletions in DNA?
Which of the following is a result of radiation exposure?
Which of the following is a result of radiation exposure?
Why do surface epithelial cells (gut and skin) have short life-times compared to neurons?
Why do surface epithelial cells (gut and skin) have short life-times compared to neurons?
What can result in small insertions and deletions during DNA replication?
What can result in small insertions and deletions during DNA replication?
Which of the following is a variant that primarily impacts translation rate?
Which of the following is a variant that primarily impacts translation rate?
Which of the following is NOT a variant that impacts polyadenylation, mRNA lifetime, and transport?
Which of the following is NOT a variant that impacts polyadenylation, mRNA lifetime, and transport?
Which of the following is a classification of variants based on predicted and/or observed effects?
Which of the following is a classification of variants based on predicted and/or observed effects?
Which of the following is an example of a variant coding?
Which of the following is an example of a variant coding?
Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?
Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?
What is the relationship between linked genes and Mendelian inheritance patterns?
What is the relationship between linked genes and Mendelian inheritance patterns?
What is the probability of crossover between two adjacent genes on a chromosome?
What is the probability of crossover between two adjacent genes on a chromosome?
What is the difference between genetic mapping and physical mapping?
What is the difference between genetic mapping and physical mapping?
Which type of marker can be phenotype or genotype based?
Which type of marker can be phenotype or genotype based?
What does LOD score stand for?
What does LOD score stand for?
What is the simplest form of the LOD score equation?
What is the simplest form of the LOD score equation?
What does the null hypothesis state about theta for a dihybrid unlinked gene?
What does the null hypothesis state about theta for a dihybrid unlinked gene?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What did studies of Mendelian disease genes reveal about disease-causing mutations?
What did studies of Mendelian disease genes reveal about disease-causing mutations?
Which of the following is a type of mutation that results in a complete loss of activity of a protein?
Which of the following is a type of mutation that results in a complete loss of activity of a protein?
Which of the following is a type of mutation that gives a new functionality to a protein?
Which of the following is a type of mutation that gives a new functionality to a protein?
Which of the following is a type of mutation that affects the wild type gene product in a negative way?
Which of the following is a type of mutation that affects the wild type gene product in a negative way?
Which of the following is a type of mutation that is dependent upon the environment for its phenotype?
Which of the following is a type of mutation that is dependent upon the environment for its phenotype?
Which of the following is a cause of DNA replication errors resulting in single nucleotide variants (SNVs)?
Which of the following is a cause of DNA replication errors resulting in single nucleotide variants (SNVs)?
Which of the following is a mechanism that can result in small insertions and deletions during DNA replication?
Which of the following is a mechanism that can result in small insertions and deletions during DNA replication?
Which of the following can result in chromosomal structural aberrations and complex rearrangements?
Which of the following can result in chromosomal structural aberrations and complex rearrangements?
Which of the following is a mechanism that can lead to translocations during meiosis or DNA repair?
Which of the following is a mechanism that can lead to translocations during meiosis or DNA repair?
Which of the following is NOT a type of DNA sequence variation?
Which of the following is NOT a type of DNA sequence variation?
What is the effect of a 3 bp inframe indel in exons?
What is the effect of a 3 bp inframe indel in exons?
Which of the following is a classification of variants based on their predicted and/or observed effects?
Which of the following is a classification of variants based on their predicted and/or observed effects?
What is the main effect of small indels in transcription factor binding sites?
What is the main effect of small indels in transcription factor binding sites?
What is the estimated mutation rate for single nucleotide variants (SNVs) in humans?
What is the estimated mutation rate for single nucleotide variants (SNVs) in humans?
What is the suggested nomenclature for mostly SNPs and short indels?
What is the suggested nomenclature for mostly SNPs and short indels?
Which of the following is NOT a factor contributing to variation in the human genome?
Which of the following is NOT a factor contributing to variation in the human genome?
What is the effect of somatic variations in an organism?
What is the effect of somatic variations in an organism?
Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?
Which method is used to determine the molecular mechanisms of a disease in order to guide treatment?
What is the relationship between linked genes and Mendelian inheritance patterns?
What is the relationship between linked genes and Mendelian inheritance patterns?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What is the main effect of small indels in transcription factor binding sites?
What is the main effect of small indels in transcription factor binding sites?
Which of the following factors contribute to the variation in the human genome?
Which of the following factors contribute to the variation in the human genome?
What is the main goal of the 1000 Genomes project consortium?
What is the main goal of the 1000 Genomes project consortium?
What is the typical variation from the reference genome in terms of the number of variants?
What is the typical variation from the reference genome in terms of the number of variants?
Which continent generally has a higher number of variants in the human genome?
Which continent generally has a higher number of variants in the human genome?
Which of the following is a characteristic of genotype-based markers?
Which of the following is a characteristic of genotype-based markers?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What is the range of the recombinant probability (theta) for one meiosis for one gene?
What is the null hypothesis regarding theta for a dihybrid unlinked gene?
What is the null hypothesis regarding theta for a dihybrid unlinked gene?
What is the LOD score equation used for?
What is the LOD score equation used for?
What does LOD stand for in LOD score?
What does LOD stand for in LOD score?
What is the observed linkage in the simplest form of the LOD score equation?
What is the observed linkage in the simplest form of the LOD score equation?
