deleterious-mutation-q1

Question

In the paired FASTQs deleterious.mutation.q1.R1.fq.gz and deleterious.mutation.q1.R2.fq.gz (exome 2×150 bp, reads from human chr9 only), there is one gene that harbors a high-confidence homozygous nonsense SNV for a gene that is highly LoF-intolerant. Report the HGNC gene symbol (uppercase) for that gene.

Predicted answer

STXBP1Most likely answer for this question; not uniquely determined from submitted scores.

Domain

Genomics

Question style

Routine Analysis

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.