[GET-dev] Autoscores + Counsyl variants
Tom Clegg
tom at scalablecomputingexperts.com
Fri May 21 00:41:39 EDT 2010
Autoscores for all of the Counsyl variants are attached.
There were a few lines that look like they were corrupted by some
translation process (I ignored them):
",nsSNP8S
",nsSNP58Q
",nsSNP52W
Distribution of autoscores for counsyl variants: (select
autoscore,count(variant_id) from counsyl_autoscore group by autoscore)
+-----------+-------------------+
| autoscore | count(variant_id) |
+-----------+-------------------+
| 0 | 33 |
| 1 | 4 |
| 2 | 119 |
| 3 | 4 |
| 4 | 129 |
+-----------+-------------------+
Distribution of autoscores for all variants: (cut -f40 latest-flat.tsv |
tail -n +2 | sort -n | uniq -c)
62304 0
3993 1
10473 2
1512 3
3378 4
Presumably *some* variants should be getting scores >4 -- I'll have to look
at this tomorrow (examples welcome).
The "in genetests?" contribution to the above autoscores is based on whether
the gene is *listed* in genetests, not whether its record indicates "test
available"... contrary to what I told Madeleine today. I've fixed that just
now, and the scores are being recalculated. (64 of the 836 genes in
genetests are "no test available")
Tom
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