During variant calling in germline testing, why is it essential to sequence the proband's parents (trio analysis)?
Show answer and explanation
Correct answer: To determine the phase and inheritance pattern of variants
Trio sequencing (proband and both parents) allows for the determination of the inheritance pattern (de novo, autosomal recessive, or X-linked) and the phasing of variants (determining which variants are on the same chromosome). This is crucial for accurate interpretation of genetic variants in rare diseases.
Keep practicing
More DNA Sequencing questions
- 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:
- Why is bisulfite sequencing specifically utilized in epigenetic studies?
- What is the primary bioinformatic challenge presented by homopolymer regions in Ion Torrent sequencing data?
- Which quality control metric is most indicative of successful library preparation for NGS?