In the context of clinical NGS, what does 'depth of coverage' refer to?
Show answer and explanation
Correct answer: The average read depth at each nucleotide position
Depth of coverage (often expressed as 'X') is the average number of sequencing reads that align to a given reference nucleotide. Higher depth increases confidence in variant calling, particularly for detecting low-frequency somatic mutations or heterozygous calls.
Keep practicing
More DNA Sequencing questions
- A tumor sample shows an allele frequency of 5% for a specific KRAS mutation. Which sequencing artifact is most critical to rule out before…
- What distinguishes third-generation sequencing (e.g., Oxford Nanopore) from second-generation sequencing (e.g., Illumina)?
- During variant calling in germline testing, why is it essential to sequence the proband's parents (trio analysis)?
- In Sanger sequencing chromatograms, what does a broad, double-peak pattern beneath a single nucleotide position typically indicate?
- What is the primary advantage of using targeted gene panels over whole-exome sequencing (WES) in a clinical oncology setting?
- The term 'read' in DNA sequencing refers to: