Bioinformatics 1 wk 2, 2.12

2,099 responses

Scenario 1 Laboratory records: The variant has been seen before in your patient population – and you can see how it has been reported in the past. Is this information that you would:

2K out of 2K answered

1
Consider
52% / 1K resp.
2
Certainly Report
37% / 780 resp.
3
Ignore
10% / 228 resp.

Scenario 2 A bioinformatics researcher at the University has worked on the protein, and published a number of papers on it. Their new bioinformatics analysis tool for the gene predicts that the variant will certainly be damaging. Is this information that you would:

2K out of 2K answered

1
Consider
45% / 954 resp.
2
Certainly Report
26% / 558 resp.
3
Ignore
1% / 28 resp.

Scenario 3 A disease specific database reports that scientists in other genome medicine centres have identified the variation as damaging. Is this information that you would:

2K out of 2K answered

1
Certainly Report
67% / 1K resp.
2
Consider
31% / 659 resp.
3
Ignore
0% / 19 resp.

Scenario 4 A literature review finds a number of papers that report on this variant. A number of them have performed functional studies to show that the variant significantly effects the protein function. Is this information that you would:

2K out of 2K answered

1
Certainly Report
59% / 1K resp.
2
Consider
37% / 791 resp.
3
Ignore
3% / 67 resp.