3 ms·
I'm curious if you think your primary sequence data is strong enough to support confident automated lookups. Do you computationally prioritize the mutations pr
by jfarlow 10y ago
I'm curious if you think your primary sequence data is strong enough to support confident automated lookups. Do you computationally prioritize the mutations prior to human annotation? If your primary sequence is good enough it should be pretty straightforward to look for coding sequences, mutations which create truncations, mutations which change amino acid charge, mutations in proteins known to be oncogenes, etc.
- JangoSteve 10y agoThis is currently done; it's part of the filtering and annotation process that happens at the tale end of the secondary analysis. Everything I'm talking about comes after that. This is part of why the human interpretation part takes hours to a day, instead of a day to several days. However, it's far from perfect and can always be improved. That's one of the things we're trying to help with, is to do further pre-processing on the knowledge-base of all genomic information contained in all published literature, to try to drive the current hours-to-a-day timeframe down to minutes-to-an-hour, or just minutes. One issue though, is that it's a constant tug-of-war optimizing between false-positives (giving you too many variants to manually review) and false-negatives (removing variants due to some data threshold which may have been clinically significant).