Bioinformatics 1 wk 2, 2.12

2,221 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
51%/ 1K resp.
2
Certainly Report
37%/ 829 resp.
3
Ignore
10%/ 240 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
Certainly Report
52%/ 1K resp.
2
Consider
45%/ 1K resp.
3
Ignore
1%/ 31 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%/ 705 resp.
3
Ignore
0%/ 21 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%/ 837 resp.
3
Ignore
3%/ 71 resp.