Figure 3:
Bar chart of results from question 4 which asked ‘Considering the
sequence of a transcript, which is the most important to you (choose
one):
- That the sequence matches the reference assembly sequence (e.g.
GRCh37/ hg19), even if it contains minor alleles
- That the sequence does not contain any pathogenic alleles
- That the sequence matches the global major allele
- That the sequence does not change
- It doesn’t matter to me
Both the clinical (N=285) and non-clinical (N=503) respondents had
“that the sequence matches the reference..” as most important (44%;
50%). For many in the clinical group, however, it was also important
that a transcript did not contain any pathogenic alleles (7% of
‘non-clinical’ respondents but 23% ‘clinical’ ones). Only a minority
prioritised that a transcript sequence never changes (<10%).