deleterious-mutation-q2

Question

In deleterious.mutation.q2.R1.fq.gz (exome 1×150 bp, reads from human 50Mb chunk of chr9 only), there is one gene that harbors a high-confidence nonsense SNV consistent with somatic mosaicism. The gene is highly LoF-intolerant. Report the HGNC gene symbol (uppercase) for the affected gene, and the approximate alternate allele frequency, rounded to the nearest 10%. Expected output format: POU5F1,10

Predicted answer

STXBP1,20Most likely answer for this question; not uniquely determined from submitted scores.

Domain

Genomics

Question style

Synthetic/Augmented Data

An answer can be uniquely inferred for 54 of 100 questions from submitted scores. Green: correct · Red: incorrect. For questions without a uniquely determined answer: Blue: matches prediction · Orange: differs from prediction. These are inferred answer checks, not official per-question grades.