Genomics & Molecular Biology Flashcards
7 cards from real STP practice questions. Tap to flip, then mark Knew It or Still Learning — missed cards come back until you master them.
Read the first 7 Genomics & Molecular Biology flashcards as text
A genome-wide association study (GWAS) is designed primarily to:
Answer: Identify statistical associations between common genetic variants and specific traits or diseases
GWAS scans the genomes of large populations to identify SNPs or other variants that are statistically associated with a phenotype or disease, without a prior hypothesis about specific genes.
Copy number variations (CNVs) refer to:
Answer: Segments of DNA ≥1 kb present in a variable number of copies relative to a reference genome
CNVs are structural variants typically ≥1 kb in size where the number of copies of a genomic segment differs between individuals, contributing to phenotypic diversity and disease susceptibility.
RNA sequencing (RNA-seq) is used in clinical and research genomics to:
Answer: Quantify and characterise the transcriptome, including expression levels and splicing variants
RNA-seq converts the transcriptome to cDNA and sequences it using NGS, providing quantitative gene expression data and revealing transcript isoforms and fusion genes.
CRISPR-Cas9 gene editing works by:
Answer: Guided RNA directing the Cas9 endonuclease to a specific genomic sequence where it introduces a double-strand break
A single guide RNA (sgRNA) complementary to the target sequence directs Cas9 to that locus where it creates a site-specific double-strand break, triggering repair pathways that can be exploited for editing.
In genomic medicine, a 'variant of uncertain significance' (VUS) means that:
Answer: Insufficient evidence exists to classify the variant as pathogenic or benign
VUS designates variants where current evidence is insufficient to determine pathogenicity, requiring follow-up studies, familial segregation analysis, or functional data before clinical action is taken.
Pharmacogenomics is primarily concerned with:
Answer: How genetic variation influences an individual's response to drugs, including efficacy and adverse reactions
Pharmacogenomics examines how inherited genetic differences in drug-metabolising enzymes, transporters, and targets affect drug response, enabling personalised medicine approaches.
Whole exome sequencing (WES) targets approximately what proportion of the human genome?
Answer: ~1–2% of the genome, encompassing protein-coding exons
The exome constitutes roughly 1–2% of the genome (~30 Mb) but contains the majority of currently known disease-causing variants, making WES an efficient diagnostic strategy.