Question
Variants of these features that were classified as pathogenic for hypertrophic cardiomyopathy were found to be benign and expressed at higher frequencies in Americans with African ancestry, but not in white Americans. For 10 points each:
[10m] Name these changes at a lone base pair in the genome, which occur in at least one percent of the population.
ANSWER: single nucleotide polymorphisms [or SNPs (“snips”)]
[10h] Patients may be told they have a genetic variant that is neither benign nor pathogenic, but instead has this ACMG class 3 designation. This designation can reflect a lack of knowledge due to databases of predominantly European ancestry.
ANSWER: variant of uncertain significance [or variant of unknown significance or VUS]
[10e] Polygenic risk scores, which estimate the risk of disease and thus predict this set of observed traits, also do not generalize well to different ancestry groups. This set of expressed characters is contrasted with genotype.
ANSWER: phenotype
<AY, Biology>
Summary
| 2024 ARCADIA at UC Berkeley | 2024-12-06 | Y | 2 | 20.00 | 100% | 100% | 0% |
| 2024 ARCADIA at Waterloo | 2024-11-09 | Y | 1 | 20.00 | 100% | 100% | 0% |
| 2024 ARCADIA at GT | 2024-12-06 | Y | 4 | 12.50 | 100% | 25% | 0% |
| 2024 ARCADIA at Illinois | 2024-11-09 | Y | 1 | 10.00 | 100% | 0% | 0% |
| 2024 ARCADIA at Warwick | 2024-12-06 | Y | 5 | 12.00 | 100% | 20% | 0% |
Data
| Berkeley Past | Berkeley B | 10 | 0 | 10 | 20 |
| Berkeley A | Stanford | 10 | 0 | 10 | 20 |