medical genomics Flashcards
(32 cards)
What is the primary use of GWAS?
to identify genetic variations associated with complex traits or diseases
The 1000 Genomes Project aimed to find genetic variants with a frequency of at least:
1%
What is the main goal of the ENCODE Project?
To identify functional elements in the human genome
Which of the following is NOT considered a member of the microbiome?
A. Symbionts
B. Commensals
C. Parasites
D. Pathobionts
✅ Correct answer: C
Q10: Which sequencing method belongs to the third generation?
C. PacBio
What is the main aim of genetic mapping?
To discover how often two loci are separated by meiotic recombination
(or to determine the location of genes and genetic markers on chromosomes)
Which of the following is a key feature of linked genes?
They are transmitted together more often than not
If two genes are 50 map units apart, what does it suggest?
They undergo recombination in 50% of meioses and they are on different chromosomes
- What technique is typically used to detect the recombination between genetic markers?
Test crosses
In the context of complex diseases, what does “multifactorial” mean?
Involving multiple genetic and environmental factors
Which approach is preferred for mapping susceptibility factors when the genetic model is unclear?
Non-parametric methods (e.g., affected sib pair analysis)
The “common disease–common variant” hypothesis proposes that:
B) Common diseases are due to many common gene variants with modest effects
What does the “mutation–selection” hypothesis suggest about susceptibility factors?
They are primarily due to individually rare, recent mutations
In haplotype mapping, how is a “haplotype” best defined?
A group of adjacent alleles that are inherited together
What does “linkage disequilibrium” (LD) refer to?
C) The non-random association of alleles at two or more loci
Q: What is the main focus of genomics?
Answer: B) DNA structure and function
Q: Which of the following is NOT a branch of genomics?
A) Functional genomics
B) Structural genomics
C) Neurogenomics
D) Epigenomics
Answer: C) Neurogenomics
Q: Functional genomics primarily studies:
Answer: B) Gene expression and gene products such as mRNA and proteins
Q: Transcriptomics is a subfield of:
Answer: B) Structural genomics
Q: Which subfield of genomics studies evolutionary relationships between genes and proteins of different species?
Answer: A) Comparative genomics
Q: Which of the following best describes epigenomics?
the study of changes in gene expression that occur without altering the underlying DNA sequence
Q: Which branch of genomics focuses on detecting variations in DNA methylation and chromatin modifications?
Answer: C) Epigenomics
Q: The goal of pharmacogenomics includes all EXCEPT:
A) Developing personalized drugs based on genetic makeup
B) Improving drug efficacy and safety
C) Eliminating the need for clinical drug trials
D) Understanding genetic causes of variable drug responses
Answer: C)
Q: Global hypomethylation in cancer typically leads to:
Answer: B) Oncogene activation and chromosomal rearrangement
